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Gene: Lif MGI:96787

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

leukemia inhibitory factor

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lif 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 Lif (0 diseases)
Human diseases predicted to be associated with Lif (1423 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Immunodeficiency 88	Eosinophilia	OMIM:619630
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Patchy reduction of bone mineral density	ORPHA:57196
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea	OMIM:300604
Papular Xanthoma	Histiocytosis	ORPHA:158008
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi...	OMIM:160120
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Ring Chromosome Y Syndrome	Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,...	ORPHA:261529
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility	OMIM:619009
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Hyperprolactinemia	Oligomenorrhea, Female infertility, Menorrhagia	OMIM:615555
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Failure to thrive, BCGitis, Increased circulating ferritin concentrat...	OMIM:618963
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Osteoporosis, ...	ORPHA:100024
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Immunodeficiency 104	Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Failure to thriv...	OMIM:608971
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Abnormal bleeding, H...	OMIM:231100
Premature Ovarian Failure 13	Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea	OMIM:617442
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteolysis	OMIM:228600
Autosomal Recessive Distal Osteolysis Syndrome	Osteolysis	ORPHA:2776
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Osteolysis	ORPHA:158014
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Abdominal pai...	ORPHA:33402
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Recurrent viral infections, Diarrhea, Protracted diarrhea, Pancytopenia, ...	ORPHA:572
Aicardi-Goutieres Syndrome 6	Splenomegaly, Tremor, Rigidity, Chilblains, Increased circulating Interferon-alpha concentration,...	OMIM:615010
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati...	ORPHA:309169
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans...	ORPHA:100093
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Histiocytosis, Familial Lipochrome	Histiocytosis	OMIM:235900
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal cortical bone morphology, Reduced bone mineral density, Osteolysis	ORPHA:970
Premature Ovarian Failure 6	Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia...	OMIM:612310
Eales Disease	Epistaxis, Macular edema, Anterior uveitis, Rubeosis iridis, Retinal thinning, Peripheral retinal...	ORPHA:40923
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Juvenile Hyaline Fibromatosis	Joint stiffness, Progressive flexion contractures, Osteolysis	ORPHA:2028
Immunodeficiency 48	Pneumonia, Pneumocystis carinii pneumonia, Failure to thrive, Eczematoid dermatitis, Recurrent ca...	OMIM:269840
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology	ORPHA:482
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Mildly elevated creatine kinase, Tremor	OMIM:614369
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, ...	OMIM:619398
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Ab...	OMIM:613501
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrh...	OMIM:616050
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Diarrhea, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Increased circulating antibody le...	ORPHA:169160
Premature Ovarian Failure 22	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:620548
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Failu...	OMIM:300400
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail...	OMIM:278000
Immunodeficiency 32B	Hypoalbuminemia, Pneumonia, Failure to thrive, BCGitis, Recurrent respiratory infections, Impaire...	OMIM:226990
Hepatoportal Sclerosis	Hypersplenism, Hyperbilirubinemia, Jaundice, Gastrointestinal hemorrhage, Intrahepatic portal vei...	ORPHA:64743
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatit...	OMIM:620632
Macrophage Activation Syndrome	Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Eleva...	ORPHA:158061
Immunodeficiency 27A	Hypoalbuminemia, Pneumonia, Diarrhea, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, I...	OMIM:209950
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	OMIM:619802
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Cardiomyopathy, Anorexia, Nausea and vomiting, Splenomegaly, Hyperammonemia, A...	ORPHA:79312
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobul...	ORPHA:276
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Sepsis, Chorea, Nausea and vomiting, Hyperammonemia, Hemiplegia/hemiparesis, Anemia, Pancreatitis...	ORPHA:289916
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea,...	OMIM:607594
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Hyp...	OMIM:603552
Diarrhea 13	Hypoalbuminemia, Vomiting, Elevated circulating hepatic transaminase concentration, Failure to th...	OMIM:620357
Gorham-Stout Disease	Osteopenia, Pathologic fracture, Osteomyelitis, Cortical irregularity, Osteolysis involving bones...	ORPHA:73
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Hepa...	OMIM:201475
Folate Malabsorption, Hereditary	Ataxia, Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsor...	OMIM:229050
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Hepatosplen...	ORPHA:79333
Cog4-Cdg	Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra...	ORPHA:263501
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati...	OMIM:619644
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co...	OMIM:613101
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Protracted diarrhea,...	ORPHA:331206
Immunodeficiency 46	Sepsis, Failure to thrive, Conjunctivitis, Chronic diarrhea, Recurrent sinopulmonary infections, ...	OMIM:616740
Dengue Fever	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hypotension, Diarrhea, Bruising suscep...	ORPHA:99828
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Conjunctiv...	OMIM:240500
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Panc...	ORPHA:507
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Wells Syndrome	Eosinophilia	ORPHA:901
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Diarrhea, Failure to thrive, Recurrent urinary tract infections, Recurren...	OMIM:618495
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ...	ORPHA:540
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Diarrhea, Hepatosplenomegaly, Tetraplegia, Poikilocytosis, Elliptocytosis, Hepatomegaly, Unconjug...	OMIM:618278
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh...	OMIM:601457
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Tremor, Elevated circulating creatine kinase concentration	OMIM:615048
Rabies	Vocal cord paresis, Diarrhea, Cerebral palsy, Anorexia, Nausea and vomiting, Recurrent pharyngiti...	ORPHA:770
Aicardi-Goutieres Syndrome 3	Spasticity, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Chilblai...	OMIM:610329
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Omenn Syndrome	Pneumonia, Severe B lymphocytopenia, Recurrent viral infections, Diarrhea, Failure to thrive, Spl...	OMIM:603554
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Tetraparesis, Leukopenia, Nausea and vomiting, Hyperammonemia, Macrocytic anemia,...	ORPHA:27
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Myoclonus, Splenomegaly, Anemia, Thrombocytopenia, Hepatomega...	OMIM:610539
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Relapsing Fever	Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Increased circul...	ORPHA:91547
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:618078
Mhc Class Ii Deficiency 1	Recurrent upper respiratory tract infections, Recurrent viral infections, Failure to thrive, Chro...	OMIM:209920
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Opportunistic bacterial infection, Abnormal T cell subset distrib...	ORPHA:158048
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ...	ORPHA:158057
Reticular Dysgenesis	Sepsis, Diarrhea, Failure to thrive, Recurrent respiratory infections, Leukopenia, Malabsorption,...	ORPHA:33355
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Limitation of joint mobility, Carpal osteolysis, Camptodactyly of finger, Metacarpal osteolysis, ...	ORPHA:2774
Ollier Disease	Anemia, Joint stiffness, Osteolysis	ORPHA:296
Ovarian Dysgenesis 3	Delayed puberty, Female infertility, Aplasia of the ovary, Primary amenorrhea	OMIM:614324
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Inflammatory abnormality of th...	ORPHA:277
Keratoderma Hereditarium Mutilans	Osteolysis	ORPHA:494
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:614727
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Lactose Intolerance, Adult Type	Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F...	OMIM:223100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepa...	OMIM:308230
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hypertriglyceridemi...	OMIM:615924
Osteosarcoma	Pathologic fracture, Osteolysis	ORPHA:668
Ramon Syndrome	Osteolysis	ORPHA:3019
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Diarrhea, Fai...	OMIM:613812
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Abnormality of the liver, Tremor, Biliary tract abnormality, Prolong...	ORPHA:79234
T-Cell Immunodeficiency With Thymic Aplasia	Diarrhea, Aplasia of the thymus, Meningitis, Chronic otitis media, Opportunistic infection, Eczem...	ORPHA:83471
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased...	OMIM:612692
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko...	OMIM:267500
Rhabdoid Tumor	Cerebral palsy, Hemiplegia, Hypercalcemia, Nausea and vomiting, Neoplasm of the liver, Weight los...	ORPHA:69077
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:601859
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive in infancy, Microcytic anemia, Hepatic...	OMIM:618805
Autosomal Agammaglobulinemia	Sepsis, Bronchiectasis, Hepatitis, Failure to thrive, Recurrent respiratory infections, Diarrhea,...	ORPHA:33110
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia	ORPHA:1980
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Diarrhea, Weight loss, El...	ORPHA:54251
Propionic Acidemia	Vomiting, Failure to thrive, Cardiomyopathy, Eczematoid dermatitis, Pancytopenia, Propionyl-CoA c...	OMIM:606054
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	ORPHA:169154
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Spastic paraparesis, Polycythemia, Decre...	OMIM:613280
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Sepsis, Abnormal bleeding, Hepatitis, Diarrhea, Vomiting, Lymphopeni...	ORPHA:319218
X-Linked Agammaglobulinemia	Recurrent pneumonia, Sepsis, Hepatitis, Failure to thrive, Conjunctivitis, Osteomyelitis, Malabso...	ORPHA:47
Aggressive Systemic Mastocytosis	Pathologic fracture, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Pancytopenia, ...	ORPHA:98850
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Tremor, Infectious encephalitis, ...	ORPHA:99745
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Diarrhea, Congestive he...	ORPHA:67
Premature Ovarian Failure 7	Clitoral hypertrophy, Gonadal dysgenesis, Primary amenorrhea, Premature ovarian insufficiency, Hy...	OMIM:612964
Galactosemia I	Increased level of galactitol in red blood cells, Diarrhea, Vomiting, Failure to thrive, Decrease...	OMIM:230400
Coproporphyria, Hereditary	Diarrhea, Vomiting, Splenomegaly, Respiratory paralysis, Abdominal pain, Constipation, Hepatomega...	OMIM:121300
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hy...	ORPHA:75234
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l...	ORPHA:436159
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Sepsis In Premature Infants	Diarrhea, Decreased body weight, Neutropenia, Abdominal distention, Hepatomegaly, Jaundice, Tachy...	ORPHA:90051
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:26791
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Increased LDL cholesterol concentration, Tetraplegia, Ataxia, Hepatomegaly, Jau...	OMIM:267700
Acute Liver Failure	Diarrhea, Incoordination, Ataxia, Jaundice, Slurred speech, Gastrointestinal hemorrhage, Hepatoce...	ORPHA:90062
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Severe varicella zoster infection, Eosinophilic granul...	OMIM:616433
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Diarrhea, Pulmonary embolism, Vomiting, Budd-Chiari syndrome, Malabsorption, Int...	OMIM:226300
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Pneumocystis jirovecii pneumonia, Failure to thrive, Recurr...	OMIM:615207
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy, Obesity, Limb dystonia, Tremor, Ataxia, Intermittent diarrhea, Feedi...	OMIM:620270
Body Mass Index Quantitative Trait Locus 19	Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Glut1 Deficiency Syndrome 2	Splenomegaly, Reduced haptoglobin level, Reticulocytosis, Tremor, Ataxia, Dystonia, Hemolytic ane...	OMIM:612126
Isolated Agammaglobulinemia	Pneumonia, Sepsis, Diarrhea, Failure to thrive, Recurrent respiratory infections, Abnormal lympho...	ORPHA:229717
Eosinophilic Gastroenteritis	Hypoalbuminemia, Hematochezia, Allergic rhinitis, Atopic dermatitis, Diarrhea, Vomiting, Malabsor...	ORPHA:2070
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnut...	ORPHA:2494
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Tetraplegia, Ataxia, Reduced natural killer c...	OMIM:603553
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
Immune Thrombocytopenia	Abnormal bleeding, Thrombocytopenia	OMIM:188030
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Pneumonia, Gastrointestinal hemorrhage, Macular edema, Cardiomyopathy, Elevated circulating creat...	ORPHA:247691
Avian Influenza	Hypoalbuminemia, Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, In...	ORPHA:454836
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Elevated circulating alkalin...	OMIM:601847
Mevalonic Aciduria	Diarrhea, Morbilliform rash, Hepatosplenomegaly, Fluctuating hepatomegaly, Ataxia, Elevated circu...	OMIM:610377
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Osteolysis, Splenomegaly	ORPHA:391
Malaria	Hyperbilirubinemia, Nausea and vomiting, Elevated circulating C-reactive protein concentration, T...	ORPHA:673
Preeclampsia/Eclampsia 1	Elevated circulating hepatic transaminase concentration, Hypertension, Thrombocytopenia	OMIM:189800
Immunodeficiency 15B	Reduced natural killer cell count, Failure to thrive, Chronic diarrhea, Agammaglobulinemia, Monoc...	OMIM:615592
Leigh Syndrome, Nuclear	Spasticity, Failure to thrive, Hepatocellular necrosis, Ataxia, Dystonia	OMIM:256000
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Failure to th...	ORPHA:79319
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Acute hepatic failure, Hepatic s...	OMIM:256810
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Decreased C...	OMIM:607271
Secretory Component Deficiency	Chronic intestinal candidiasis, Intermittent diarrhea	OMIM:269650
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Fulminant hepatic failure,...	OMIM:231530
Babesiosis	Hepatic failure, Congestive heart failure, Anorexia, Leukopenia, Nausea and vomiting, Splenomegal...	ORPHA:108
Multicentric Reticulohistiocytosis	Histiocytosis	ORPHA:139436
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Osteomyelitis, Abscess, Splenomegaly, Neutrophilia, Osteolysis, Fused ce...	OMIM:612852
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Hyperphenylalaninemia, Transient hyperphenylalaninemia	OMIM:264070
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Osteolysis	OMIM:176670
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon...	OMIM:619824
Bacterial Toxic-Shock Syndrome	Diarrhea, Abscess, Glomerulonephritis, Meningitis, Tachycardia, Recurrent skin infections, Abdomi...	ORPHA:36234
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large int...	OMIM:619281
Acquired Purpura Fulminans	Hepatic failure, Sepsis, Macular purpura, Shock, Skin rash, Internal hemorrhage, Thrombocytopenia...	ORPHA:49566
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu...	ORPHA:210136
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Failure to thrive, Eczematoid dermatitis, Increased circulating IgE level, Decreased F...	OMIM:304790
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail...	OMIM:615767
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology	ORPHA:3165
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Immunodeficiency 19	Abnormal B cell morphology, Severe viral infection, Failure to thrive, Abnormal natural killer ce...	OMIM:615617
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro...	OMIM:616030
Aicardi-Goutieres Syndrome 4	Spasticity, Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenome...	OMIM:610333
Immunodeficiency 92	Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res...	OMIM:619652
Immunodeficiency 7	Severe varicella zoster infection, Diarrhea, Failure to thrive, Recurrent otitis media, Hypereosi...	OMIM:615387
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:613489
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Lymphopenia, Leukopenia...	OMIM:127550
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Recurrent bacteria...	ORPHA:169079
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa...	OMIM:619858
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Atopic dermatitis, Retinal neovascularization	OMIM:619074
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal...	OMIM:150550
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Inflammatory abnormality of the skin, Diarrhea, Increased circulating...	OMIM:102700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemi...	OMIM:251000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Diarrhea, Vomiting, Failure to thrive, Abdominal colic, Hyperlipidemia, Hypercho...	OMIM:615863
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Diarrhea, Vomiting, Increased circulating ferritin concentration, Head titubat...	ORPHA:3240
Glycogen Storage Disease Ixb	Diarrhea, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced ...	OMIM:261750
46,Xy Sex Reversal 11	Vanishing testis, Primary amenorrhea, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dy...	OMIM:273250
Felty Syndrome	Bone marrow hypocellularity, Limitation of joint mobility, Abnormal lymphocyte morphology, Spleno...	ORPHA:47612
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,...	OMIM:618944
Gaucher Disease Type 1	Gingival bleeding, Hepatosplenomegaly, Hypersplenism, Pancytopenia, Increased circulating antibod...	ORPHA:77259
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Diarrhea, Failure to thrive, Cardiomyopathy, Conge...	OMIM:212140
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Recurrent respiratory infections, Absent circulating immunoglobulin kappa chain, Recurr...	OMIM:614102
Boutonneuse Fever	Vasculitis, Elevated circulating hepatic transaminase concentration, Diarrhea, Leukopenia, Petech...	ORPHA:83313
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Elevated circulating hepatic transaminase concentration, Abnormal circulating interl...	ORPHA:542323
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c...	OMIM:619463
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Decreased circulating IgA level, Recurren...	OMIM:617744
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal bleeding, Co...	ORPHA:75564
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Failure to thrive, Abnormal c...	OMIM:618048
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Osteolysis, Osteomalacia, Bone cyst, Recurrent fractures, A...	ORPHA:93160
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Spasticity, Limb ataxia, Gait ataxi...	OMIM:616719
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Osteolysis involving tarsal bones, Increased susceptibility to fra...	ORPHA:371428
Systemic Lupus Erythematosus 17	Hypertensive crisis, Myelitis, Lymphopenia, Leukopenia, Chorea, Malar rash, Mitral regurgitation,...	OMIM:301080
Preeclampsia	Elevated systolic blood pressure, Abnormality of the hepatic vasculature, Elevated circulating he...	ORPHA:275555
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Sepsis, Diarrhea, Vomit...	ORPHA:79239
Cinca Syndrome	Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis	OMIM:607115
Frank-Ter Haar Syndrome	Joint stiffness, Osteolysis, Camptodactyly of finger	ORPHA:137834
Bleeding Disorder, Platelet-Type, 9	Bruising susceptibility, Thrombocytopenia	OMIM:614200
Brunner Syndrome	Kinetic tremor, Diarrhea	OMIM:300615
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati...	OMIM:614576
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho...	ORPHA:480520
Trehalase Deficiency	Abdominal pain, Diarrhea	OMIM:612119
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia	OMIM:620532
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cho...	OMIM:211600
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Decreased liver func...	ORPHA:42
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Hypotension, Abnormal bleeding, Hepatitis, Cardiomyopathy, Seps...	ORPHA:292
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Elevated circulating phytanic acid concentration, Abnormality of the liver, Increased...	OMIM:614307
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:911
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Graft Versus Host Disease	Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru...	ORPHA:39812
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Inflammatory abnormal...	ORPHA:79332
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Septic arthritis, Recurrent enteroviral infections, Conjunctivi...	OMIM:307200
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia...	OMIM:617237
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abnormal blood ion concentrati...	ORPHA:810
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Tremor, Elevated circulating creatine kinase concentration...	ORPHA:276435
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Delayed puberty, Primary amenorrhea	OMIM:618117
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Joint stiffness, Joint hemorrhage, Osteolysis	ORPHA:66627
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Osteolysis, Osteoarthritis	ORPHA:1657
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Arthritis, Anemia, Osteolysis	ORPHA:324964
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Recurrent viral infections, Tetraparesis, Lymphopenia, Ataxia, Recurrent lower resp...	OMIM:613179
Thrombotic Thrombocytopenic Purpura	Diarrhea, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenase concentra...	ORPHA:54057
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Diarrhea, Failure to thrive, Bloody diarrhea, Cirrhosis...	OMIM:614602
Ovarian Dysgenesis 5	Short stature, Hypoplasia of the uterus, Primary amenorrhea	OMIM:617690
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Diarrhea, Vomiting, Failure to thrive, Paraplegia, Cerebral ischemia, Hyperammonemia, Acute hyper...	ORPHA:927
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Hyperbilirub...	ORPHA:247598
Combined Malonic And Methylmalonic Acidemia	Elevated circulating hepatic transaminase concentration, Vomiting, Failure to thrive, Nasogastric...	ORPHA:289504
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Sparse pubic hair, Male hypogonadism, Abnormality of the Leydig cells, Decreased circulating dihy...	OMIM:228300
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Conjunctivitis, Lymph...	OMIM:617591
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:615758
Lujo Hemorrhagic Fever	Diarrhea, Resting tremor, Lymphopenia, Excessive bleeding after a venipuncture, Elevated circulat...	ORPHA:319213
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Infl...	ORPHA:398063
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Pathologic fracture, Calvarial hyperostosis, Increased susceptibility to fractures, Osteolysis	ORPHA:52430
Infantile Myofibromatosis	Limitation of joint mobility, Osteolysis, Bone cyst	ORPHA:2591
Snakebite Envenomation	Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Diarrhea, Vomiti...	ORPHA:449285
Premature Ovarian Failure 18	Irregular menstruation, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of t...	OMIM:619203
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Inflammation of the large intestine, Lymphadenitis, Cholestasis, Erythroderma, Hepatomegaly, Abdo...	OMIM:615895
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Heme Oxygenase 1 Deficiency	Epistaxis, Diffuse alveolar hemorrhage, Sepsis, Increased circulating lactate dehydrogenase conce...	OMIM:614034
Gaucher Disease, Type Iii	Spastic paraparesis, Pancytopenia, Myoclonus, Splenomegaly, Decreased body weight, Decreased beta...	OMIM:231000
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Maffucci Syndrome	Recurrent fractures, Osteolysis	ORPHA:163634
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive in infancy, ...	ORPHA:858
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Trehalase Deficiency	Diarrhea, Vomiting, Abnormal circulating enzyme concentration or activity, Malabsorption, Abdomin...	ORPHA:103909
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy...	OMIM:619665
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Diarrhea, Gastroesophageal reflux, Vomit...	ORPHA:298
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Cholestasis, El...	OMIM:608104
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Chronic otitis media, Bruising susceptibility, Recurrent respiratory infections, ...	ORPHA:3226
Prolidase Deficiency	Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Elevated circulating aspartate ami...	OMIM:170100
Aicardi-Goutieres Syndrome 7	Diarrhea, Tetraparesis, Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibo...	OMIM:615846
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Wilson Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Bruising s...	ORPHA:905
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Short stature, Premature ovarian insufficiency, Female infertility, Failure to thrive	OMIM:619518
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Nasogastric tube feeding in infancy, Frequent falls, Hemiballismus, Feeding diffi...	ORPHA:494526
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa...	ORPHA:247585
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Spasticity, Diarrhea, Vomiting, Failure to thrive, Decreased methionine synthase activity, Hypome...	OMIM:250940
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Cholestasis, Hepatic steatosis, Increased body weight, Cirrhosis, Hepatomegaly, Portal ...	ORPHA:264580
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Recurrent otitis media, Increased circulating IgE level, Abn...	ORPHA:98813
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Increased susceptibility to fractures, Oste...	OMIM:602080
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T...	ORPHA:755
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Menin...	OMIM:614379
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet...	ORPHA:231393
Bernard-Soulier Syndrome	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr...	OMIM:231200
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Diarrhea, Failure to thrive in infancy, Leukocytosis, Panniculitis, Skin rash, Chroni...	OMIM:617099
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Diarrhea, Increased circulating fe...	OMIM:619313
Transcobalamin Ii Deficiency	Ataxia, Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Pancytopenia, Dec...	OMIM:275350
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Hereditary Folate Malabsorption	Cheilitis, Diarrhea, Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract infectio...	ORPHA:90045
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Recurrent upper respiratory tract infections, Diarrhea, Vomiting, Hyperammonemia, Pancreatitis, A...	OMIM:620137
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Arrhythmia, Neutropenia, Hepatomegaly, Heart block, Abnormality of...	ORPHA:398124
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Dys...	OMIM:159950
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Hemophagocytosis, Agranulocyto...	OMIM:301078
Necrotizing Enterocolitis	Hypotension, Diarrhea, Abdominal distention, Vomiting, Hypoactive bowel sounds, Shock, Bloody dia...	ORPHA:391673
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m...	ORPHA:3411
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:99901
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Chronic diarrhea, B lymp...	OMIM:619164
Angioedema, Hereditary, 8	Abdominal pain, Diarrhea, Episodic vomiting	OMIM:619367
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Dysphagia, Choreoathetosis	OMIM:261630
Pontocerebellar Hypoplasia, Type 15	Hypertonia, Thrombocytopenia, Anemia, Dystonia, Spastic tetraplegia, Chronic neutropenia	OMIM:619302
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Diarrhea, Abnormal bleeding, Failure to thriv...	OMIM:602579
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Vasculitis, Hematochezia, Recurrent pneumonia, Inflammation of th...	OMIM:617718
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonis...	ORPHA:167
Legionnaires Disease	Ataxia, Hypotension, Sepsis, Diarrhea, Hepatitis, Anorexia, Lymphopenia, Nausea and vomiting, Spl...	ORPHA:549
Overlap Myositis	Elevated circulating hepatic transaminase concentration, Rheumatoid arthritis, Abnormal circulati...	ORPHA:206572
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Abnormal bleeding, Extramedullary hema...	ORPHA:824
Roifman Syndrome	Hypogonadotropic hypogonadism, Hepatosplenomegaly, Eosinophilia	ORPHA:353298
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre...	OMIM:619613
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia, Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentr...	OMIM:620651
Perrault Syndrome 3	Streak ovary, Primary amenorrhea, Short stature, Hypoplasia of the uterus, Hypergonadotropic hypo...	OMIM:614129
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
3-Methylglutaconic Aciduria Type 4	Spasticity, Failure to thrive, Cardiomyopathy, Decreased liver function, Thrombocytopenia	ORPHA:67048
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Failure to thrive, Recurrent candida infections, Splenomegaly, Tremor, Low alkaline pho...	OMIM:201100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper res...	OMIM:614069
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Aicardi-Goutieres Syndrome 5	Spasticity, Increased circulating interferon-gamma concentration, Chilblains, Feeding difficultie...	OMIM:612952
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Vomiting, Failure to thrive, Diarrhea, Malnutrition, Hypoch...	OMIM:246700
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Chor...	OMIM:615673
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia, Limb fasciculations, Tremor, Elevated circulating creatine kinase concentra...	ORPHA:90117
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Splenomegaly, ...	OMIM:602450
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus...	ORPHA:99429
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Mirage Syndrome	Sepsis, Gastroesophageal reflux, Recurrent urinary tract infections, Aspiration pneumonia, Lympho...	OMIM:617053
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinsonism, Hypermanganesemia, Sciss...	ORPHA:521406
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Thrombocytopenia, Reduced na...	OMIM:614493
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Pontocerebellar Hypoplasia, Type 14	Hypertonia, Thrombocytopenia, Dystonia, Spastic tetraplegia, Chronic neutropenia	OMIM:619301
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus, Feeding difficulties	OMIM:616921
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormality of thrombocytes, Splenomegaly,...	ORPHA:721
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal hypoplasia	OMIM:202150
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Recurrent pneumonia, Spasticity, Abnormal bleeding, Congestive heart failure, Leukopenia,...	OMIM:616271
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Increased circulating IgE level, Hepatosplenomegaly, Decreased CD4:CD...	OMIM:606367
Whipple Disease	Diarrhea, Cachexia, Abnormal pyramidal sign, Ataxia, Anorexia, Hepatomegaly, Abdominal pain, Gast...	ORPHA:3452
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Recurrent viral infections, Cholestasis, Lymphopenia, D...	OMIM:619573
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulat...	ORPHA:319552
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir...	OMIM:620376
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Vomiting, Failure to thrive, Diarrhea, H...	ORPHA:71
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Membranoproliferative glomerulonephritis, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Hematochezia, Diarrhea, Weight loss, Abnormal circulating protein concentration,...	ORPHA:103910
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic ...	OMIM:231680
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-pos...	OMIM:301000
Yellow Fever	Diarrhea, Pancreatic hyperplasia, Hyperbilirubinemia, Excessive bleeding after a venipuncture, El...	ORPHA:99829
Sitosterolemia 1	Stomatocytosis, Giant platelets, Increased circulating lactate dehydrogenase concentration, Abnor...	OMIM:210250
Whim Syndrome 1	Abnormal female external genitalia morphology, Neutropenia, Abnormal morphology of female interna...	OMIM:193670
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Sandhoff Disease, Juvenile Form	Diarrhea, Failure to thrive, Fasciculations, Incoordination, Abnormality of extrapyramidal motor ...	ORPHA:309162
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I...	OMIM:618462
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig...	OMIM:607317
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Aspiration pneumonia, Elevated circulating alkaline phosphatase concentration,...	ORPHA:94093
Aromatase Deficiency	Female infertility, Male infertility, Ambiguous genitalia, female, Obesity, Female pseudohermaphr...	ORPHA:91
Familial Mediterranean Fever	Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease...	OMIM:249100
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Ab...	ORPHA:79240
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Splenomeg...	ORPHA:294
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit...	OMIM:155100
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hypertriglyceridemia, Decreased serum leptin, Diabetic ketoacidosis	OMIM:615238
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia	ORPHA:39041
Hyperphenylalaninemia, Bh4-Deficient, A	Feeding difficulties, Tremor, Rigidity, Dystonia, Parkinsonism, Hyperphenylalaninemia, Limb hyper...	OMIM:261640
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Elevated circulating aspartate...	OMIM:255120
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Methylmalonic Aciduria, Cbla Type	Vomiting, Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Hyperglyc...	OMIM:251100
Congenital Sucrase-Isomaltase Deficiency	Gastroesophageal reflux, Vomiting, Diarrhea, Abdominal colic, Failure to thrive, Nausea, Constipa...	ORPHA:35122
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, Mala...	OMIM:557000
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Excessive bleeding after a venipunc...	ORPHA:99826
Epilepsy, Progressive Myoclonic, 6	Ataxia, Myoclonus, Tremor, Elevated circulating creatine kinase concentration	OMIM:614018
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Secondary Short Bowel Syndrome	Sepsis, Diarrhea, Failure to thrive, Vomiting, Malnutrition, Cholestasis, Malabsorption, Small in...	ORPHA:95427
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop...	OMIM:618394
Griscelli Syndrome	Spasticity, Hepatitis, Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, Thromb...	ORPHA:381
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Decre...	OMIM:277380
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Ataxia-Telangiectasia	Lymphopenia, Abnormal B cell count, Decreased proportion of CD4-positive helper T cells, Recurren...	OMIM:208900
Bleeding Disorder, Platelet-Type, 19	Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope...	OMIM:616176
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Bone Marrow Failure Syndrome 4	Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Recurrent respiratory infections, De...	OMIM:618116
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Diarrhea, Lipid accumulation in hepatocytes, Weight loss, Ataxia, Hepatomegaly, Jaund...	ORPHA:20
Specific Granule Deficiency 2	Recurrent pneumonia, Sepsis, Intractable diarrhea, Failure to thrive, Recurrent otitis media, Rec...	OMIM:617475
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Ataxia	OMIM:618387
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Large for gestationa...	ORPHA:263455
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:69665
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc...	OMIM:243700
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ...	ORPHA:35078
Basal Ganglia Calcification, Idiopathic, 1	Athetosis, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal s...	OMIM:213600
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ...	ORPHA:216873
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Keratitis, Failure to thrive, Sinus tach...	ORPHA:525731
Aceruloplasminemia	Parkinsonism, Torticollis, Ataxia, Decreased circulating ceruloplasmin concentration, Decreased c...	ORPHA:48818
Chediak-Higashi Syndrome	Ataxia, Periodontitis, Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil gr...	OMIM:214500
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Gastroesophageal reflux, Malnutrition, Myoclonus, Ataxia, Recurrent aspiration pneumonia, Intermi...	OMIM:619971
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Increased circulating interleukin 6 co...	ORPHA:457077
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodos...	ORPHA:99827
Intestinal Dysmotility Syndrome	Diarrhea, Decreased intestinal transit time, Failure to thrive, Projectile vomiting, Weight loss,...	OMIM:620045
Nestor-Guillermo Progeria Syndrome	Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, Osteolytic d...	OMIM:614008
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Recurrent...	OMIM:300755
Drug-Induced Lupus Erythematosus	Malar rash, Petechiae, Elevated circulating creatine kinase concentration, Serositis, Elevated ci...	ORPHA:231111
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Paraparesis...	OMIM:612736
Ataxia-Pancytopenia Syndrome	Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Ankle clonus, Babinski sign, Thro...	OMIM:159550
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Cardiomyopathy, Myoclonus, Tremor, Dystonia	OMIM:619651
Roifman Syndrome	Eosinophilia, Splenomegaly	OMIM:616651
Perrault Syndrome 4	Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Premature ovarian insuffici...	OMIM:615300
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Lysinuric Protein Intolerance	Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hypergly...	ORPHA:470
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych...	OMIM:619481
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan...	OMIM:613839
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Decreas...	OMIM:617021
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne...	OMIM:615952
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Opportunistic infection, C...	ORPHA:90362
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Thrombocytopenia	OMIM:166990
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Conjunctivitis, Leukocytosis, Otitis media, Skin ras...	ORPHA:3392
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm...	ORPHA:90797
Congenital Disorder Of Glycosylation, Type Ia	Diarrhea, Hepatic steatosis, Feeding difficulties in infancy, Ataxia, Hepatomegaly, Dysmetria, Hy...	OMIM:212065
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Weight loss, An...	OMIM:619381
Acute Promyelocytic Leukemia	Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi...	ORPHA:520
Lysinuric Protein Intolerance	Diarrhea, Intraalveolar phospholipid accumulation, Failure to thrive, Hemophagocytosis, Increased...	OMIM:222700
Hereditary Amyloidosis With Primary Renal Involvement	Diarrhea, Hepatosplenomegaly, Intestinal obstruction, Weight loss, Dyspepsia, Hepatomegaly, Abdom...	ORPHA:85450
Mucolipidosis Type Iii Alpha/Beta	Generalized osteoporosis, Joint stiffness, Flexion contracture, Osteolysis	ORPHA:423461
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Increased circulating IgE l...	OMIM:616069
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Abnormal bleeding, Chronic infection, Palpitations, Leukocytosi...	ORPHA:86839
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Reduced circulating 5-oxoprolinase activity, Enterocolitis, Abdominal pain	OMIM:260005
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran...	OMIM:314050
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De...	OMIM:614839
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Myoclonus, Gait ataxia, Dysmetria, Tremor, Hyperalaninemia, Dystonia, Dysd...	ORPHA:254881
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy...	ORPHA:251282
Bleeding Disorder, Platelet-Type, 25	Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta...	OMIM:620486
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Hepatic steatosis, Myoc...	ORPHA:363400
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Recurrent tonsillitis, Atopic dermatitis, Vomiting, Failure to...	ORPHA:171876
Enterokinase Deficiency	Diarrhea, Hypoproteinemia, Failure to thrive	OMIM:226200
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati...	OMIM:606159
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Oculogyric crisis, Diarrhea, Failure to thrive, Gastroesophageal reflux, Tremor, Bab...	ORPHA:35708
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Eczematoid dermatitis, Agammaglobulinemia, Absent circulating B cells, Seborrh...	OMIM:619693
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Vomiting, Failure to thrive, Decreased methylmalonyl-CoA mutase activity,...	OMIM:251110
Shwachman-Diamond Syndrome	Recurrent viral infections, Aplastic anemia, Pancytopenia, Increased serum bile acid concentratio...	ORPHA:811
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Celiac Disease, Susceptibility To, 1	Ataxia, Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Ecz...	OMIM:212750
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Hemiparesis, Meningitis, Abdominal pain, Hyperkalemia, Abnormal circulating chemokine c...	ORPHA:544482
Hypocomplementemic Urticarial Vasculitis	Uveitis, Diarrhea, Conjunctivitis, Cerebral palsy, Episcleritis, Splenomegaly, Hemiplegia/hemipar...	ORPHA:36412
Atelis Syndrome 1	Eczematoid dermatitis, Leukopenia, Glue ear, Hypertonia, Thrombocytopenia, Anemia, Recurrent infe...	OMIM:620184
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Cutaneous abscess, Sterile abscess	OMIM:618282
Saccharopinuria	Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnormal circulating enzyme...	ORPHA:3124
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Osteolysis	ORPHA:659
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Diarrhea, Vomiting, Maln...	ORPHA:79456
Ataxia-Telangiectasia	Spasticity, Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopen...	ORPHA:100
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp...	ORPHA:231401
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst...	ORPHA:343
Tick-Borne Encephalitis	Tongue fasciculations, Incoordination, Speech apraxia, Anorexia, Elevated circulating C-reactive ...	ORPHA:297
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicula...	ORPHA:453533
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Diarrhea, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Arrhythmia,...	ORPHA:352447
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepato...	ORPHA:231226
Immune Dysregulation, Autoimmunity, And Autoinflammation	Gingival bleeding, Epistaxis, Abnormal circulating C-reactive protein concentration, Increased ci...	OMIM:620514
Cyclic Neutropenia	Sepsis, Recurrent tonsillitis, Opportunistic infection, Periodontitis, Lymphopenia, Cyclic neutro...	ORPHA:2686
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Spasticity, Recurrent viral infections, Increased circulating ...	OMIM:620565
Phenylketonuria	Eczematoid dermatitis, Tremor, Lower limb spasticity, Hyperphenylalaninemia, Ataxia	ORPHA:716
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Failure to thri...	ORPHA:300536
Hyperzincemia With Functional Zinc Depletion	Vasculitis, Diarrhea, Increased serum zinc, Skin rash, Hepatomegaly	OMIM:601979
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Gastroesophageal reflux, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rig...	OMIM:613135
Neurodegeneration With Brain Iron Accumulation 7	Dysmetria, Tremor, Lower limb spasticity, Ataxia, Increased circulating very long-chain fatty aci...	OMIM:617916
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Rift Valley Fever	Gingival bleeding, Hemiparesis, Paraparesis, Anorexia, Jaundice, Anemia, Increased circulating Ig...	ORPHA:319251
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Anorexia, Nausea and vomiting, Hyperammonemia, Keratoconj...	ORPHA:79242
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis, Lower limb spasticity, Bloody dia...	OMIM:615119
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Feeding difficulties	OMIM:615085
Hyper-Igd Syndrome	Diarrhea, Lymphadenitis, Vomiting, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splen...	OMIM:260920
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Osteolysis, Arthritis	ORPHA:220393
Dpm1-Cdg	Hepatic fibrosis, Spasticity, Elevated circulating hepatic transaminase concentration, Diarrhea, ...	ORPHA:79322
Spontaneous Periodic Hypothermia	Diarrhea, Nausea and vomiting, Skin rash, Tremor, Arrhythmia, Ataxia	ORPHA:29822
Dracunculiasis	Diarrhea, Nausea and vomiting, Skin rash, Arthritis, Recurrent cutaneous abscess formation	ORPHA:231
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy, Myoclonus, Tremor, Dystonia, Frequent falls	OMIM:619647
Lysosomal Acid Lipase Deficiency	Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Elevated circulating alkaline p...	ORPHA:275761
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology	ORPHA:3032
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Chorea, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Abnormal bleeding, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100082
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis	ORPHA:2902
Beta-Ketothiolase Deficiency	Ataxia, Hypotension, Spasticity, Diarrhea, Vomiting, Anorexia, Leukocytosis, Hyperammonemia, Hype...	ORPHA:134
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertr...	ORPHA:79085
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Weight loss, Anorexia, Hepatomegaly, Me...	ORPHA:781
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne...	OMIM:618986
Alg1-Cdg	Hypoalbuminemia, Sepsis, Cardiomyopathy, Decreased liver function, Recurrent infections, Chronic ...	ORPHA:79327
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal circula...	ORPHA:391487
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Diarrhea, Intestinal obstruction, Recurrent pharyngitis, Elevated circulating C-reactive protein ...	ORPHA:32960
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea, ...	OMIM:158330
Mandibuloacral Dysplasia With Type A Lipodystrophy	Limitation of joint mobility, Acroosteolysis of distal phalanges (feet), Osteolytic defects of th...	ORPHA:90153
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Vomiting, Diarrhea, Failure to thrive, Hyponatremia, Hyperkalemia, Feeding difficult...	OMIM:177735
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Chronic diarrhea, ...	OMIM:116920
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Increased circulating lactate dehydrogenase concentration, Abnorm...	OMIM:185070
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Panhypogammaglobulinemi...	OMIM:601495
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, ...	OMIM:618775
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Myh9-Related Disease	Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets, Bruising sus...	ORPHA:182050
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Transient ische...	OMIM:274150
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb dystonia, Hepatic steatosis, Cirrho...	OMIM:277900
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Dysphagia, Tremor, Elevated circulating creatine kinase concentration	OMIM:313200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Cerebral palsy, Generalized dystonia, Hyperglycinemia, Hyperammonemia, Hypergl...	OMIM:620358
Wiskott-Aldrich Syndrome	Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large inte...	ORPHA:906
Alg8-Cdg	Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Vomiting, H...	ORPHA:79325
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Hemorrhagic Fever-Renal Syndrome	Diarrhea, Hyperphosphatemia, Decreased body weight, Glomerulonephritis, Tubulointerstitial nephri...	ORPHA:340
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Hyperglycinemia, Action tremor, Hepatomegaly, Jaundice, Bradykinesia, Poor f...	ORPHA:309854
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Abnormal circulating enzyme concentration or activity, Abnormal circulating porphyrin c...	ORPHA:100924
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased circulating lactate dehydrogenase concentration, Tremor, Dysmetria, Elevated circulatin...	OMIM:619405
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure	ORPHA:141179
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepato...	ORPHA:231214
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Glutathionuria	Reduced gamma-glutamyltransferase level, Eczematoid dermatitis, Reduced tissue gamma-glutamyltran...	OMIM:231950
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ...	OMIM:187800
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Leukocytosis, Nausea and vomiting, Hyponatremia, Paralysis, Hashimoto thyroi...	ORPHA:83601
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ...	ORPHA:169090
Spinocerebellar Ataxia 40	Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In...	OMIM:616053
Sweet Syndrome	Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Chronic lympha...	ORPHA:3243
Cystic Echinococcosis	Peritoneal abscess, Abnormality of the testis size, Splenic cyst, Abscess, Ovarian cyst, Eosinoph...	ORPHA:400
Transaldolase Deficiency	Hepatic fibrosis, Failure to thrive, Micronodular cirrhosis, Decreased liver function, Hepatosple...	OMIM:606003
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Abnormal bleeding, Failure to thrive, Vomiting, Hypersegmentation of neutrop...	ORPHA:35858
Biotinidase Deficiency	Diarrhea, Vomiting, Hyperammonemia, Splenomegaly, Skin rash, Feeding difficulties in infancy, Seb...	OMIM:253260
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Ataxia, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet g...	OMIM:603585
Listeriosis	Arteritis, Diarrhea, Abscess, Hemiparesis, Pustule, Ataxia, Jaundice, Meningitis, Abdominal pain,...	ORPHA:533
Neuroendocrine Tumor Of Stomach	Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepatomegaly, Right ventricular ...	ORPHA:100075
Slc35A1-Cdg	Pneumonia, Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abn...	ORPHA:238459
Castleman Disease	Restrictive cardiomyopathy, Increased circulating interleukin 6 concentration, Nausea and vomitin...	ORPHA:160
Mixed Connective Tissue Disease	Leukopenia, Joint stiffness, Splenomegaly, Arthritis, Hemolytic anemia, Osteolysis	ORPHA:809
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Gastroesophageal reflux, Failure to thrive, Elevated circulating propionylcarnitine concentration...	OMIM:614857
Pachydermoperiostosis	Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Splenomegaly, Art...	ORPHA:2796
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
Fibrous Dysplasia Of Bone	Rickets, Osteomalacia, Pathologic fracture, Cortical irregularity, Fibrous dysplasia of the bones...	ORPHA:249
Neuroendocrine Tumor Of The Colon	Hypotension, Elevated circulating hepatic transaminase concentration, Right ventricular failure, ...	ORPHA:100080
Solitary Rectal Ulcer Syndrome	Hematochezia, Tenesmus, Chronic constipation, Decreased body weight, Episodic abdominal pain, Ane...	ORPHA:209964
Chromomycosis	Ankylosis, Osteolysis	ORPHA:182
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Cachexia, Parkinsonism, Ataxia, Dystonia, ...	OMIM:618093
Gaucher Disease, Type Ii	Spasticity, Bronchiolitis, Gastroesophageal reflux, Failure to thrive, Splenomegaly, Rigidity, An...	OMIM:230900
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Arteritis, Sepsis, Acne inversa, Herpes simplex enc...	OMIM:233600
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Peroxisome Biogenesis Disorder 5B	Decreased liver function, Elevated circulating phytanic acid concentration, Dysmetria, Tremor, Oc...	OMIM:614867
Sapho Syndrome	Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Arthrit...	ORPHA:793
Blue Diaper Syndrome	Diarrhea, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Increased b...	ORPHA:94086
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Decreased body weight, Iron deficien...	OMIM:607906
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Kaposi Sarcoma	Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, Weight loss, Recurrent ...	ORPHA:33276
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Vomiting, Diarrhea, Failure to thrive, Hyponatremia, Feeding difficulties in infancy...	OMIM:264350
Zika Virus Disease	Myelitis, Vomiting, Subcutaneous hemorrhage, Skin rash, Maculopapular exanthema, Infectious encep...	ORPHA:448237
Forsythe-Wakeling Syndrome	Thrombocytopenia, Decreased body weight	OMIM:613606
Platelet Signal Processing Defect	Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair...	OMIM:173590
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Limb myoclonus, Abnormal circulating enzyme concentration or acti...	ORPHA:2590
American Trypanosomiasis	Diarrhea, Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Infectious encephali...	ORPHA:3386
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Malabsorption, Decreased mucosal sucrase-isomaltase activity	OMIM:222900
Waldenström Macroglobulinemia	Normocytic anemia, Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Leukemi...	ORPHA:33226
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Increased circulating lactate dehydrogenase concentration, Vomiting, Microangiopathic h...	ORPHA:90038
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Failure to thrive, Facial paralysis, O...	OMIM:259700
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased serum leptin	OMIM:614962
Thyrocerebrorenal Syndrome	Nephritis, Myoclonus, Thrombocytopenia, Nonprogressive cerebellar ataxia, Slurred speech	ORPHA:3327
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl...	OMIM:619151
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure	ORPHA:141184
Congenital Disorder Of Glycosylation, Type Ie	Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Tremor,...	OMIM:608799
Enteric Anendocrinosis	Cholestatic liver disease, Vomiting, Diarrhea, Malabsorption, Portal hypertension	ORPHA:83620
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Leukopenia, Pancytopenia, Hyperuricemia, Hyponatremia, Pulmona...	OMIM:613845
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase...	OMIM:614921
Good Syndrome	Diarrhea, Recurrent urinary tract infections, Recurrent skin infections, Abnormal leukocyte morph...	ORPHA:169105
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Bleeding Disorder, Platelet-Type, 21	Recurrent viral infections, Abnormal bleeding, Eczematoid dermatitis, Psoriasiform dermatitis, Im...	OMIM:617443
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Elevated circulating deoxyuridine concentration, Diarrhea, Intestinal pseudo-obstr...	OMIM:603041
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Gastrointestinal infar...	ORPHA:464343
H Syndrome	Osteolysis, Microcytic anemia, Hepatosplenomegaly, Camptodactyly, Histiocytosis, Recurrent fractures	ORPHA:168569
Schimke Immuno-Osseous Dysplasia	Minimal change glomerulonephritis, Lymphopenia, Hemiparesis, Neutropenia, Abdominal distention, A...	ORPHA:1830
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Erysipelas, Hepatic amyloidosis, Skin rash, Chronic consti...	OMIM:142680
Mandibuloacral Dysplasia With Type B Lipodystrophy	Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand...	ORPHA:90154
Homozygous 11P15-P14 Deletion Syndrome	Diarrhea, Feeding difficulties in infancy, Vomiting, Failure to thrive	OMIM:606528
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Prolonged bleeding following proced...	ORPHA:79259
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M...	OMIM:124900
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of...	ORPHA:3002
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Hypertonia, Thrombocytopenia, Reduced 3-phosphoglycerate dehydrogenase acti...	OMIM:601815
Leptospirosis	Diarrhea, Pulmonary hemorrhage, Nausea and vomiting, Arrhythmia, Anorexia, Hepatomegaly, Abdomina...	ORPHA:509
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Ataxia, ...	OMIM:615688
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Nephritis, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Conges...	OMIM:617303
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Diarrhea, Vomiting, Failure to thrive, Gait ataxia, Cachexia, Weight loss, Feeding difficulties	OMIM:612075
Central Diabetes Insipidus	Diarrhea, Failure to thrive, Nausea and vomiting, Hyponatremia, Weight loss, Anorexia	ORPHA:178029
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Neutropenia, Hepatomegaly, Recurrent lower...	OMIM:612541
Immunodeficiency 23	Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia	OMIM:615816
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Failure to thrive, Petechiae, Abnormality of...	OMIM:602473
Hirschsprung Disease	Diarrhea, Sepsis, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tr...	ORPHA:388
Pseudo-Torch Syndrome 1	Spasticity, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased...	OMIM:251290
Stuve-Wiedemann Syndrome 2	Eczematoid dermatitis, Congestive heart failure, Pulmonary arterial hypertension, Thrombocytopeni...	OMIM:619751
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypotension, Sepsis, Diarrhea, Hepatitis, Failure to thrive, Nausea and vomiti...	ORPHA:199299
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ...	OMIM:619377
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia	OMIM:617388
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Lassa Fever	Sepsis, Abnormal bleeding, Diarrhea, Shock, Nausea and vomiting, Abdominal pain, Conjunctivitis, ...	ORPHA:99824
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,...	OMIM:619271
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon...	OMIM:194072
Sea-Blue Histiocytosis	Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegal...	ORPHA:158029
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Dysmetria, Tremor, Limb hypertonia, Thrombocytopenia, Ataxia, Hypertonia, Dystoni...	OMIM:617710
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal circulating enzyme concentration or activity, Malabsorption, Nausea, Abdominal...	ORPHA:103907
Familial Dysautonomia	Acrocyanosis, Recurrent fractures, Osteolysis	ORPHA:1764
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased serum estradiol, Decreased circulating follicle stimulat...	OMIM:614842
Kallmann Syndrome With Spastic Paraplegia	Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogo...	OMIM:308750
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Elevated circulating ...	OMIM:301110
Methanol Poisoning	Diarrhea, Vomiting, Inflammatory arteriopathy, Permanent atrial fibrillation, Hyperlipidemia, Cer...	ORPHA:31825
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Hypotension, Oculogyric crisis, Diarrhea, Gastroesophageal reflux, Limb dystonia, ...	OMIM:608643
Refractory Anemia	Normocytic anemia, Abnormal bleeding, Anemia of inadequate production, Macrocytic anemia, Erythro...	ORPHA:98826
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased fertility, Cryptorchidism, Polycystic ovaries, Dysmenorrhea, Male pseudohermaphroditism...	ORPHA:90796
Bone Dysplasia, Lethal Holmgren Type	Diarrhea, Failure to thrive, Hypertrophic cardiomyopathy, Nausea and vomiting, Anemia, Weight los...	ORPHA:1842
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card...	ORPHA:464321
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Decreased circulating total IgG, Diarrhea, Psoriasiform dermatitis, D...	ORPHA:221139
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Lymphopenia, Psoriasiform dermatitis, Interface hepatitis, Autoimmune hemolytic ane...	OMIM:243150
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Congestive heart failure, Paroxysmal atrial tachycardia, Megaloblastic anemia, Thromboc...	ORPHA:49827
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, BCGitis, Lymphopenia, Decreased circulating I...	OMIM:612782
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circulating creatine kinase c...	OMIM:208920
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Eunuchoid...	ORPHA:432
Noonan Syndrome 12	Atopic dermatitis, Lymphopenia, Supravalvular aortic stenosis, Feeding difficulties in infancy, T...	OMIM:618624
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Spasticity, Gastroesophageal reflux, Failure to thrive, Chronic constipation, Hypertonia, Thrombo...	OMIM:616577
Immunodeficiency 31C	Bronchiectasis, Diarrhea, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ec...	OMIM:614162
Congenital Rubella Syndrome	Splenomegaly, Skin rash, Anemia, Thrombocytopenia, Hepatomegaly, Jaundice, Spastic diplegia	ORPHA:290
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Arrhythmia, Nausea, R...	OMIM:615084
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Diarrhea, Xerostomia, Vomiting, Hypomagnesemia, Malabsorption, Hypocalcemia, Hypoka...	OMIM:175500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ...	OMIM:242860
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Vomiting, Right ventricular failure, Abdominal colic, Decre...	ORPHA:90363
Abetalipoproteinemia	Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Ataxia, Hepatomegaly, Hypotrigl...	ORPHA:14
Porphyria, Acute Intermittent	Diarrhea, Vomiting, Respiratory paralysis, Paralysis, Abdominal pain, Paralytic ileus, Constipati...	OMIM:176000
Aicardi-Goutieres Syndrome 1	Vasculitis, Spasticity, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, ...	OMIM:225750
Hypermanganesemia With Dystonia 2	Spasticity, Generalized dystonia, Limb dystonia, Tremor, Elevated circulating creatine kinase con...	OMIM:617013
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Hyperphenylalaninemia, Limb hypertonia, Dystonia, Dysph...	OMIM:233910
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm...	OMIM:619755
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Failure to ...	OMIM:600802
Atypical Hemolytic Uremic Syndrome	Abnormal circulating lactate dehydrogenase concentration, Thrombocytopenia, Microangiopathic hemo...	ORPHA:2134
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Kaposiform Lymphangiomatosis	Fractures of the long bones, Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thromb...	ORPHA:464329
Oculopharyngodistal Myopathy 4	Postural tremor, Dysphagia, Tremor, Elevated circulating creatine kinase concentration	OMIM:619790
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Chorea, Abnormal circulating enzyme concentration or activity, Myoclonus, Dysmetria, ...	ORPHA:79263
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicular size, Azoospe...	OMIM:308700
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Diarrhea, Recurrent aphthous stomatitis, Recurrent sinusitis, Abdominal pain, El...	OMIM:613960
Bleeding Disorder, Platelet-Type, 20	Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia	OMIM:616913
Tetanus	Tremor, Elevated circulating creatine kinase concentration, Rigidity, Opisthotonus, Abdominal pai...	ORPHA:3299
Von Willebrand Disease, Type 2	Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia	OMIM:613554
Dystonia 28, Childhood-Onset	Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli...	OMIM:617284
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Diarrhea...	OMIM:601419
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Irregular menstruation, Male hypogonadism, Precocious puberty in females, Failure to thrive, Bifi...	ORPHA:90793
Coenzyme Q10 Deficiency, Primary, 1	Hepatic failure, Hypertrophic cardiomyopathy, Pancytopenia, Myoclonus, Tremor, Elevated circulati...	OMIM:607426
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Decreased circulating carnitine concentration, Reduced HMG-CoA lyase activity in cult...	OMIM:246450
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Diarrhea, Increased circulating lactate dehydrogenase concentratio...	ORPHA:93552
Gaucher Disease Type 3	Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Increased circulating antibody...	ORPHA:77261
Sneddon Syndrome	Lymphopenia, Hemiplegia, Ischemic stroke, Tremor, Cerebral hemorrhage, Decreased circulating tota...	OMIM:182410
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Postural tremor, Myoclonus, Action tremor, Gait ataxia, Thrombocytopenia, Dyspha...	OMIM:254900
Immunodeficiency 17	Abnormal B cell morphology, Failure to thrive, Eczematoid dermatitis, Decreased proportion of CD8...	OMIM:615607
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Poor...	ORPHA:420741
Oculopharyngodistal Myopathy 3	Ataxia, Dysphagia, Tremor, Elevated circulating creatine kinase concentration	OMIM:619473
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Hemiparesis, Achalasia, Raynaud phenomenon, Thrombocytopenia, Dysphagia, Hyperte...	OMIM:615750
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Decreased circulating IgA level, Psoriasiform dermatitis, Decrea...	OMIM:617765
Neuroblastoma	Abnormal bleeding, Increased circulating lactate dehydrogenase concentration, Abdominal distentio...	ORPHA:635
Pseudo-Torch Syndrome 3	Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocyto...	OMIM:618886
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Lymphoproliferative Syndrome, X-Linked, 2	Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis	OMIM:300635
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypomethioninemia, Feeding difficulties in infancy, Neutropenia, Hepatomegaly, Tachycardia, Methy...	OMIM:277400
Maternal Uniparental Disomy Of Chromosome 4	Diarrhea, Malnutrition, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abe...	ORPHA:96180
Diarrhea 4, Malabsorptive, Congenital	Vomiting, Diarrhea, Failure to thrive	OMIM:610370
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Osteolysis, Liver abscess	ORPHA:678
Thrombocytopenia 5	Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi...	OMIM:616216
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl...	ORPHA:314632
Rat-Bite Fever	Sepsis, Lymphadenitis, Septic arthritis, Diarrhea, Parotitis, Vomiting, Morbilliform rash, Skin r...	ORPHA:31205
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Hereditary Fructose Intolerance	Hypermagnesemia, Reduced circulating aldolase concentration, Diarrhea, Vomiting, Hyperuricemia, N...	ORPHA:469
Igg4-Related Aortitis	Hypereosinophilia	ORPHA:449400
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Diarrhea, Vomiti...	OMIM:608836
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Obesity, Primary amenorrhea, Short stature,...	ORPHA:247768
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Diarrhea, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyper...	OMIM:235400
Combined Oxidative Phosphorylation Deficiency 14	Myoclonus, Increased hepatic glycogen content, Copper accumulation in liver, Thrombocytopenia, El...	OMIM:614946
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia	OMIM:608404
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia, Dysphagia	OMIM:128235
Thrombocytopenia 9	Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Renal And Mullerian Duct Hypoplasia	Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,...	OMIM:266810
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Eczematoid dermatitis, Recurrent otitis media, Hyposegmentati...	OMIM:169400
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo...	ORPHA:160148
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility...	OMIM:187900
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath...	OMIM:619424
Porphyria, Congenital Erythropoietic	Osteopenia, Joint contracture of the hand, Pathologic fracture, Splenomegaly, Thrombocytopenia, R...	OMIM:263700
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Hypersplenism, Pancytopenia, Po...	OMIM:613385
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Uveitis, Diarrhea, Congestive heart failure, ...	ORPHA:727
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties...	ORPHA:3260
Myelofibrosis	Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis	OMIM:254450
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hypertonia, Hepatomegaly...	ORPHA:85212
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Recur...	ORPHA:333
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Chronic otitis media, Recurrent...	OMIM:618131
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Glucagonoma	Diarrhea, Acanthocytosis, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hep...	ORPHA:97280
Shwachman-Diamond Syndrome 2	Normocytic anemia, Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic...	OMIM:617941
Isovaleric Acidemia	Vomiting, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia, Reduced isovaleryl C...	OMIM:243500
Scorpion Envenomation	Diarrhea, Hemifacial spasm, Premature ventricular contraction, Arrhythmia, Ataxia, Tachycardia, A...	ORPHA:466677
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous...	ORPHA:853
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertr...	ORPHA:435651
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Cryptorchidism	OMIM:611890
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Speech apraxia, Chorea, Esophagitis, Hep...	OMIM:615356
Kikuchi-Fujimoto Disease	Ataxia, Vasculitis, Elevated circulating hepatic transaminase concentration, Increased circulatin...	ORPHA:50918
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl...	OMIM:613986
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting, Failure to thrive	OMIM:614265
Thyrocerebroretinal Syndrome	Nephritis, Myoclonus, Thrombocytopenia, Ataxia, Slurred speech	OMIM:274240
Systemic Capillary Leak Syndrome	Hypotension, Diarrhea, Leukocytosis, Arrhythmia, Weight loss, Pancreatitis, Myocarditis, Abdomina...	ORPHA:188
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Impaired platelet adhesion, Diarrhea, Bruising susceptibi...	ORPHA:324636
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Cronkhite-Canada Syndrome	Diarrhea, Malabsorption, Splenomegaly, Cachexia, Anemia, Anorexia, Hepatomegaly, Abdominal pain	ORPHA:2930
Glucose-Galactose Malabsorption	Vomiting, Diarrhea, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ...	ORPHA:35710
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain	OMIM:191390
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Gaucher Disease	Gingival bleeding, Pancytopenia, Increased circulating antibody level, Feeding difficulties in in...	ORPHA:355
Aregenerative Anemia	Abnormal circulating interleukin concentration, Abnormal bleeding, Bruising susceptibility, Pancy...	ORPHA:101096
Japanese Encephalitis	Diarrhea, Increased circulating antibody level, Opisthotonus, Anorexia, Neutrophilia, Meningitis,...	ORPHA:79139
Somatostatinoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Nausea and...	ORPHA:97283
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn...	OMIM:619991
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Dilated cardiomyopathy, Aplastic anemia, Failure to thrive, Pancytopenia, Leuko...	OMIM:613989
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating hepatic transaminase concentration, Leukopenia, Elevated circulating creatin...	OMIM:301056
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Diarrhea, Lack of bowel so...	ORPHA:97278
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Intractable diarrhea, Panhypogammaglobulinemia, Bloody di...	ORPHA:84064
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Short s...	ORPHA:3130
Nipah Virus Disease	Hypotension, Anorexia, Myoclonus, Nausea and vomiting, Tremor, Infectious encephalitis, Recurrent...	ORPHA:99825
Seckel Syndrome 7	Severe short stature, Intrauterine growth retardation, Hypoplasia of the uterus, Primary amenorrhea	OMIM:614851
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Sepsis, Dia...	ORPHA:36426
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Tremor, Abnormal immunoglobulin level, Erythroderma...	ORPHA:3162
Familial Hypoaldosteronism	Hypotension, Diarrhea, Failure to thrive, Increased circulating renin level, Nausea and vomiting,...	ORPHA:427
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia...	OMIM:152700
Roch-Leri Mesosomatous Lipomatosis	Purpura, Thrombocytopenia	ORPHA:529
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d...	OMIM:612953
Attrv30M Amyloidosis	Atrioventricular block, Diarrhea, Cardiomyopathy, Arrhythmia, Weight loss, Constipation	ORPHA:85447
Fetal Parvovirus Syndrome	Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia	ORPHA:295
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d...	OMIM:153670
Scrub Typhus	Hypotension, Abnormal bleeding, Nausea and vomiting, Splenomegaly, Tremor, Infectious encephaliti...	ORPHA:83317
Shwachman-Diamond Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Persistence of hemogl...	OMIM:260400
Letterer-Siwe Disease	Abdominal distention, Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, A...	OMIM:246400
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Bleeding Disorder, Platelet-Type, 15	Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega...	OMIM:615193
Alg12-Cdg	Abnormal circulating IgG level, Recurrent pharyngitis, Partial absence of specific antibody respo...	ORPHA:79324
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Dilated cardiomyopathy, Diarrhea, Vomiting, Generalized dystonia, Pancytopenia, Chorea, Myoclonus...	OMIM:618321
Kawasaki Disease	Diarrhea, Nausea and vomiting, Arrhythmia, Recurrent pharyngitis, Elevated circulating C-reactive...	ORPHA:2331
Idiopathic Aplastic Anemia	Gingival bleeding, Epistaxis, Pancytopenia, Retinal hemorrhage, Ecchymosis, Reticulocytopenia, Th...	ORPHA:88
Hyperprolinemia Type 2	Diarrhea, Abnormal circulating enzyme concentration or activity, Hyperglycinemia, Hyperprolinemia...	ORPHA:79101
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Abdominal distention	OMIM:616868
Cockayne Syndrome Type 1	Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Tremor, Ane...	ORPHA:90321
Malonyl-Coa Decarboxylase Deficiency	Diarrhea, Dilated cardiomyopathy, Vomiting, Reduced malonyl-CoA decarboxylase activity in culture...	OMIM:248360
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hepatomegaly, Hypoplastic...	ORPHA:699
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Hypotension, Sepsis, Abnormal circulating interleukin concentration, Abnor...	ORPHA:70578
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Female infertility, Amenorrhea, Premature ovarian insufficiency, Hypoplas...	OMIM:110100
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Diarrhea, Cardiomyopathy, Paraplegia, Limb ataxia, Tremor, Hemip...	OMIM:105210
Cold Agglutinin Disease	Diarrhea, Nausea and vomiting, Splenomegaly, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Diarrhea, Vomiting, Failure to thrive, Myoclonus, Ataxia, Hepatomegaly	OMIM:560000
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Diarrhea, V...	ORPHA:348
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Chr...	OMIM:256040
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Vomiting, Failure to thrive, Cholestasis, Tricuspid regurgitation, Recur...	OMIM:620233
Acute Radiation Syndrome	Hypotension, Inflammatory abnormality of the skin, Abnormal bleeding, Diarrhea, Vomiting, Lymphop...	ORPHA:454831
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eosinophilia	ORPHA:2314
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Short stature, Postnatal growth retardation, Truncal obesity, Abdominal obesity	OMIM:618160
Cerebrotendinous Xanthomatosis	Cholelithiasis, Spasticity, Abnormal circulating cholesterol concentration, Diarrhea, Pseudobulba...	OMIM:213700
Colchicine Poisoning	Hypotension, Cardiogenic shock, Diarrhea, Vomiting, Congestive heart failure, Hypomagnesemia, Leu...	ORPHA:31824
Boucher-Neuhauser Syndrome	Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration, Abnormal upper m...	OMIM:215470
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sp...	OMIM:259720
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor...	ORPHA:251510
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Petechiae, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Acute Adrenal Insufficiency	Normocytic anemia, Hypotension, Diarrhea, Failure to thrive, Recurrent acute respiratory tract in...	ORPHA:95409
Familial Glucocorticoid Deficiency	Hypotension, Diarrhea, Vomiting, Failure to thrive, Recurrent urinary tract infections, Hypertrop...	ORPHA:361
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T...	ORPHA:99657
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire...	OMIM:139090
Holocarboxylase Synthetase Deficiency	Vomiting, Skin rash, Hyperammonemia, Reduced holocarboxylase synthetase activity in cultured fibr...	OMIM:253270
46,Xx Sex Reversal 2	Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Infertility, True hermaph...	OMIM:278850
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi...	OMIM:615157
Medullary Thyroid Carcinoma	Diarrhea, Weight loss, Dysphagia, Abnormal liver parenchyma morphology	ORPHA:1332
Von Willebrand Disease, Type 3	Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge...	OMIM:277480
Cutaneous Mastocytoma	Hypotension, Telangiectasia macularis eruptiva perstans, Elevated total serum tryptase, Diarrhea,...	ORPHA:79455
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Transient ischemic attack, Cerebral ischem...	OMIM:242900
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Diarrhea, Splenomegaly, Reduced tissue alpha-N-acet...	OMIM:252920
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Hepatic failure, Spasticity, Micronodular cirrhosis, Aspiration pneumonia, Postural tremo...	OMIM:301072
Alpha-Mannosidosis, Infantile Form	Osteopenia, Cranial hyperostosis, Joint stiffness, Hepatosplenomegaly, Pancytopenia, Joint hyperm...	ORPHA:309282
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Acute Intermittent Porphyria	Diarrhea, Pseudobulbar paralysis, Abnormal circulating enzyme concentration or activity, Nausea a...	ORPHA:79276
Erdheim-Chester Disease	Anemia, Increased bone mineral density, Osteolysis, Osteomyelitis	ORPHA:35687
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Inter...	ORPHA:330001
Alternating Hemiplegia Of Childhood	Diarrhea, Oral-pharyngeal dysphagia, Tetraparesis, Arrhythmia, Abnormal pyramidal sign, Abdominal...	ORPHA:2131
Dyskeratosis Congenita, Autosomal Recessive 2	Recurrent opportunistic infections, Pancytopenia, Cirrhosis, Thrombocytopenia	OMIM:613987
Trichohepatoenteric Syndrome 1	Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Aortic regurgitation, Small for gestational age, ...	OMIM:222470
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Failure to thrive, Exocrine pancreatic insufficiency, Hypertrophic cardiomyopathy, Ma...	OMIM:616539
Congenital-Onset Steinert Myotonic Dystrophy	Diarrhea, Gastroesophageal reflux, Bundle branch block, Speech apraxia, Obesity, Encopresis, Decr...	ORPHA:589821
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cirrhosi...	OMIM:301068
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob...	ORPHA:1333
Thiamine-Responsive Megaloblastic Anemia Syndrome	Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Thiamine-responsive megaloblastic ...	OMIM:249270
Serotonin Syndrome	Hypotension, Hepatic failure, Diarrhea, Myoclonus, Tremor, Rigidity, Nausea, Clonus, Hypertonia, ...	ORPHA:43116
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Feeding difficulties, Hyperglycinemia, Myoclonus, Ankle clonus, Thrombo...	OMIM:620423
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Adult-Onset Distal Myopathy Due To Vcp Mutation	Fasciculations, Tremor, Parkinsonism, Frequent falls, Mildly elevated creatine kinase, Bowel inco...	ORPHA:329478
Maculopapular Cutaneous Mastocytosis	Vomiting, Diarrhea, Elevated total serum tryptase, Nausea, Abdominal pain	ORPHA:79457
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Nephritis, Pneumonia, Biliary cirrhosis, Hypotriglyceridemia, Abnormal circulati...	ORPHA:2298
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Hypertension, Raynaud phenomenon, Thrombocytopenia	ORPHA:401945
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	OMIM:611126
Ethylmalonic Encephalopathy	Diarrhea, Failure to thrive, Petechiae, Abnormality of extrapyramidal motor function, Abnormal py...	ORPHA:51188
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Failure to thrive, Leukopenia, Portal hypertension, Congenital hepat...	ORPHA:974
Hellp Syndrome	Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta...	ORPHA:244242
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Hypersplenism, Pancytopenia, Splenomegaly, Mitral regurgitation...	OMIM:230800
Mucopolysaccharidosis, Type Iiia	Recurrent upper respiratory tract infections, Diarrhea, Reduced leukocyte N-sulfoglucosamine sulf...	OMIM:252900
Diarrhea 6	Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease	OMIM:614616
Satoyoshi Syndrome	Short stature, Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Pulmonary venous hypertension, Weigh...	ORPHA:90060
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosp...	OMIM:259710
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Elevated circulating creatine kinase conce...	OMIM:606002
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fasciculations, Tremor, Elevated circulating creatine kinase concentration	ORPHA:209335
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Familial Mediterranean Fever	Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Arrhythmia, Abdomin...	ORPHA:342
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Gastroesophageal reflux, Vomiting, Incoordination, Elevated circulating creatinine conc...	OMIM:223900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha...	OMIM:147060
Cystathioninuria	Cystathioninemia, Tremor	ORPHA:212
Lymphatic Filariasis	Hypereosinophilia, Abnormal scrotum morphology, Orchitis, Vaginal hydrocele, Hydrocele testis, Ep...	ORPHA:2035
Congenital Syphilis	Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Malabsorption, ...	ORPHA:499009
Methionine Malabsorption Syndrome	Positive ferric chloride test, Diarrhea	OMIM:250900
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Small for gestational age, Failure to thrive, Arthritis	OMIM:613217
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Spasticity, Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis,...	OMIM:618213
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Mercury Poisoning	Hypotension, Interstitial pneumonitis, Tremor, Hypokalemia, Episodic abdominal pain, Nausea, Epis...	ORPHA:330021
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Skin rash, Weight loss, Kera...	OMIM:617321
Sandhoff Disease	Spasticity, Fasciculations, Hepatosplenomegaly, Upper motor neuron dysfunction, Episodic abdomina...	OMIM:268800
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Vomiting, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Thrombocytopenia, Abdom...	OMIM:300048
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Aspiration pneumonia, Tremor, Ankle clonus, Agammaglobulinemia, Babinski si...	ORPHA:52368
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Dysphagia, In...	ORPHA:447
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Mitchell-Riley Syndrome	Diarrhea, Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperbilirubinemia, Absent gallbl...	OMIM:615710
Incontinentia Pigmenti	Spina bifida occulta, Eosinophilia, Osteolysis, Camptodactyly of finger	ORPHA:464
Fabry Disease	Diarrhea, Vomiting, Tenesmus, Congestive heart failure, Fasciculations, Transient ischemic attack...	OMIM:301500
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Diarrhea, Failure to thrive, Hypokalemia, Anemia, Abdominal pain	OMIM:174900
Classic Phenylketonuria	Eczematoid dermatitis, Hemiplegia, Paraplegia, Nausea and vomiting, Tremor, Hyperphenylalaninemia...	ORPHA:79254
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Chron...	OMIM:619446
Leukocyte Adhesion Deficiency Type Ii	Ataxia, Recurrent pneumonia, Keratitis, Failure to thrive, Recurrent urinary tract infections, Mi...	ORPHA:99843
Congenital Disorder Of Glycosylation, Type Ij	Elevated circulating hepatic transaminase concentration, Tremor, Hypertonia, Jaundice, Hypoprotei...	OMIM:608093
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Gastroparesis, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Par...	OMIM:618877
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Sepsis, Acu...	ORPHA:537
Zygomycosis	Diarrhea, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis, Gastroi...	ORPHA:73263
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion...	ORPHA:53351
Mogs-Cdg	Decreased circulating IgG level, Nasogastric tube feeding, Hepatosplenomegaly, Decreased circulat...	ORPHA:79330
Chronic Visceral Acid Sphingomyelinase Deficiency	Ataxia, Cholelithiasis, Hepatic failure, Abnormal bleeding, Decreased liver function, Abnormal ci...	ORPHA:77293
Diarrhea 9	Diarrhea, Failure to thrive	OMIM:618168
Adult Intestinal Botulism	Diaphragmatic paralysis, Diarrhea, Cerebral palsy	ORPHA:178487
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increase...	ORPHA:289390
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Vomiting, Failure to thrive, Hyponatremia, Feeding difficulties in infancy, Hyperkal...	OMIM:203400
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Diarrhea, Lack of bowel so...	ORPHA:97261
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic shock, Protracted...	ORPHA:97287
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Decerebrate rigidity, Laryngeal dystonia, Incoordination, Fa...	ORPHA:845
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia	ORPHA:183
Behr Syndrome	Dysmetria, Tremor, Chronic constipation, Babinski sign, Dysphagia, Ataxia, Truncal ataxia, Progre...	OMIM:210000
Congenital Erythropoietic Porphyria	Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Throm...	ORPHA:79277
Coccidioidomycosis	Granuloma, Osteomyelitis, Abnormality of the spleen, Abscess, Eosinophilia, Arthritis, Increased ...	ORPHA:228123
Hyperlysinemia	Hypoornithinemia, Recurrent pneumonia, Poor motor coordination, Gastroesophageal reflux, Failure ...	ORPHA:2203
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a...	ORPHA:3109
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Inflammatory abnormality of ...	OMIM:610768
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic...	ORPHA:903
Aa Amyloidosis	Hypotension, Vomiting, Malnutrition, Cholestasis, Malabsorption, Nausea, Hepatomegaly, Abdominal ...	ORPHA:85445
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Polysplenia, Asplenia, Male infertility	ORPHA:244
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis	ORPHA:2396
Hajdu-Cheney Syndrome	Osteopenia, Coarse metaphyseal trabecularization, Osteolysis, Splenomegaly, Joint hypermobility, ...	ORPHA:955
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa...	OMIM:620005
Hepatoerythropoietic Porphyria	Osteopenia, Erythroid hyperplasia, Splenomegaly, Osteoporosis, Hemolytic anemia, Osteolysis	ORPHA:95159
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, El...	ORPHA:85435
Alveolar Echinococcosis	Cutaneous abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Pancreatic cysts, Liver abscess	ORPHA:284
Autosomal Spastic Paraplegia Type 58	Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B...	ORPHA:397946
Cocaine Intoxication	Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, Tachycardia, Diffuse alveolar h...	ORPHA:90068
Foodborne Botulism	Diarrhea, Xerostomia, Cerebral palsy, Nausea and vomiting, Paralysis, Arrhythmia, Constipation, D...	ORPHA:228371
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Osteolysis	ORPHA:1546
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu...	ORPHA:100078
Thrombocytopenia 1	Decreased mean platelet volume, Epistaxis, Bruising susceptibility, Eczematoid dermatitis, Increa...	OMIM:313900
Congenital Tufting Enteropathy	Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Malabsorption, Puncta...	ORPHA:92050
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Failure to thrive, Meconium ileus, Exocrine pan...	OMIM:219700
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia...	OMIM:619738
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Arrhythmia, Ataxia, Bradykinesia, Dysphagia, Gastroesophageal reflux, Gastropares...	ORPHA:254892
Chikungunya	Periostitis, Joint stiffness, Synovitis, Arthritis, Enthesitis, Stiff interphalangeal joints, Ost...	ORPHA:324625
Estrogen Resistance	Primary amenorrhea, Hypoplasia of the uterus, Delayed puberty, Polycystic ovaries	OMIM:615363
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Decreased circulating IgG level, Sepsis, Conjunctivitis, Congestive heart failur...	ORPHA:505248
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia...	ORPHA:309108
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio...	ORPHA:508533
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,...	OMIM:617145
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertr...	ORPHA:435660
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly	OMIM:615122
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Abnormal macrophage morphology	ORPHA:353
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology	OMIM:611067
Complement Component 5 Deficiency	Intractable diarrhea, Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurre...	OMIM:609536
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M...	ORPHA:2575
Sengers Syndrome	Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Thrombocytopenia, Cardiac arrest, S...	OMIM:212350
Inflammatory Skin And Bowel Disease, Neonatal, 1	Failure to thrive, Bloody diarrhea, Increased circulating IgE level, Pustule, Erythroderma, Bleph...	OMIM:614328
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Abnormal circulating crea...	ORPHA:199351
Chromosome 19P13.13 Deletion Syndrome	Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties	OMIM:613638
Wolfram Syndrome 1	Cardiomyopathy, Sideroblastic anemia, Tremor, Megaloblastic anemia, Thrombocytopenia, Ataxia, Dys...	OMIM:222300
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin conce...	ORPHA:713
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ...	ORPHA:449432
Neuropathy, Hereditary Sensory And Autonomic, Type V	Diarrhea, Hand tremor, Osteomyelitis, Constipation, Osteoarthritis, Septic arthritis	OMIM:608654
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Anemia, Flexion contracture, Bone cyst, Osteolysis	ORPHA:3042
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Diarrhea, Splenomegaly, Hepatomegaly, Asymmetric se...	OMIM:252930
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Botulism	Diarrhea, Xerostomia, Cerebral palsy, Nausea and vomiting, Arrhythmia, Constipation, Diaphragmati...	ORPHA:1267
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis, Mildly elevated creatine kinase, Tremor	ORPHA:397744
Bone Marrow Failure Syndrome 3	Recurrent infections, Aplastic anemia, Failure to thrive, Increased mean corpuscular volume, Pers...	OMIM:617052
Lig4 Syndrome	Failure to thrive, Pancytopenia, Psoriasiform dermatitis, Chronic sinusitis, Telangiectasia, Thro...	OMIM:606593
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Decreased circulating luteinizing...	OMIM:619761
Incontinentia Pigmenti	Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Eosinophilia, Hypoplastic ...	OMIM:308300
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Hyperlipidemia, Gout,...	OMIM:232200
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis...	OMIM:606693
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Young-Onset Parkinson Disease	Spasticity, Diarrhea, Bradykinesia, Gastroparesis, Tremor, Rigidity, Constipation, Nausea, Dystonia	ORPHA:2828
Exercise-Induced Malignant Hyperthermia	Hypotension, Hepatic failure, Abnormal pulse pressure, Abnormal bleeding, Decreased liver functio...	ORPHA:466650
Adiposis Dolorosa	Diarrhea, Xerostomia, Bruising susceptibility, Obesity, Telangiectasia of the skin, Constipation,...	ORPHA:36397
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Neuroblastoma, Susceptibility To, 1	Diarrhea, Failure to thrive, Myoclonus, Weight loss, Ataxia, Anemia, Abdominal pain, Hypertension	OMIM:256700
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Bradycardia, Petechiae, Thrombocytopenia...	OMIM:617397
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Diarrhea, Vomiting, Abnormal EKG, Elevated circulating creatinine concentrat...	ORPHA:230
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Gaucher Disease, Perinatal Lethal	Hepatic failure, Hepatosplenomegaly, Splenomegaly, Petechiae, Decreased body weight, Opisthotonus...	OMIM:608013
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Spasticity, Failure to thrive, Congestive heart failure, Chole...	OMIM:615512
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Dilated cardiomyopathy, Pulmonary embolism, Failure to thrive, Subdural hemorrhage, Eleva...	ORPHA:79282
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Congestive heart failure, Tr...	ORPHA:508542
Occipital Horn Syndrome	Synostosis of joints, Osteopenia, Rickets, Osteomalacia, Joint hypermobility, Osteoporosis, Osteo...	ORPHA:198
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Epistaxis, Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Bruising sus...	OMIM:601399
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Spasticity, Limb dystonia, Gastrostomy tube feeding in infancy, Constipation, Limb hypertonia, Th...	ORPHA:457351
Aicardi-Goutières Syndrome	Spasticity, Neonatal alloimmune thrombocytopenia, Spastic paraparesis, Hepatosplenomegaly, Chilbl...	ORPHA:51
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Aplasia of the uterus, Eosinophilia, Spina bifida, Thrombocytop...	OMIM:274000
Intellectual Developmental Disorder, Autosomal Dominant 51	Failure to thrive, Recurrent otitis media, Chronic constipation, Chronic diarrhea, Feeding diffic...	OMIM:617788
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa...	OMIM:301220
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Stt3B-Cdg	Feeding difficulties, Failure to thrive, Thrombocytopenia	ORPHA:370924
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Exocrine pancreatic insufficiency, Dysmetria, Hyperechogenic pancreas, Abnorma...	ORPHA:456312
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp...	ORPHA:168558
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Kasabach-Merritt Phenomenon	Abdominal distention, Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, ...	ORPHA:2330
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Abdominal distention, Bronchiec...	OMIM:619445
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Arrhythmia, Acute infectious pneumo...	ORPHA:707
Congenital Disorder Of Glycosylation, Type Ix	Feeding difficulties, Failure to thrive, Thrombocytopenia	OMIM:615597
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, K...	OMIM:240300
Cholera	Hypovolemic shock, Hypotension, Diarrhea, Vomiting, Aspiration pneumonia, Abnormal blood ion conc...	ORPHA:173
Quebec Platelet Disorder	Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi...	OMIM:601709
Phoar2-Enteropathy Syndrome	Hypoalbuminemia, Seborrheic dermatitis, Acne, Secretory diarrhea	OMIM:614441
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Congestive heart failure, Recurrent...	OMIM:309900
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Large for gestational age, Feeding difficulties, Thrombocytopenia	OMIM:616638
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis	ORPHA:86884
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia...	ORPHA:90041
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp...	ORPHA:289548
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Weight loss, Tachycardia, Periodic paralysis	OMIM:613239
Glutaric Aciduria Iii	Diarrhea, Vomiting, Failure to thrive, Hypertension, Reduced peroxisomal glutaryl-CoA oxidase act...	OMIM:231690
Mandibuloacral Dysplasia With Type B Lipodystrophy	Acroosteolysis of distal phalanges (feet), Flexion contracture, Osteolytic defects of the distal ...	OMIM:608612
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Mednik Syndrome	Hepatic fibrosis, Diarrhea, Cholestasis, Cirrhosis, Increased circulating very long-chain fatty a...	OMIM:609313
Vipoma	Intrahepatic cholestasis, Secretory diarrhea, Abnormal gastrointestinal motility, Malabsorption, ...	ORPHA:97282
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective pro...	OMIM:612132
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Developmental And Epileptic Encephalopathy 50	Diarrhea, Failure to thrive, Acanthocytosis, Hyperammonemia, Schistocytosis, Anisopoikilocytosis,...	OMIM:616457
Niemann-Pick Disease, Type A	Microcytic anemia, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:257200
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Osteolysis	ORPHA:1052
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Abnormal circulating enzyme concentration or activity, Limb dystonia, Dysmetria, ...	ORPHA:572798
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy of the spinal cord...	OMIM:602433
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Aspiration pneumonia, Action tremor, Abnormal pyramidal sign, Clonus, A...	ORPHA:99027
Fanconi Anemia, Complementation Group T	Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:616435
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Failure to thrive, Generalized dystonia, Intention tremor, Tremor, Progressiv...	OMIM:312080
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Abnormal bleedin...	ORPHA:79076
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Microcytic anemia, Recurrent otitis media, Hepatic stea...	OMIM:619525
Bernard-Soulier Syndrome	Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Spontaneous h...	ORPHA:274
Addison Disease	Normocytic anemia, Hypotension, Diarrhea, Failure to thrive, Nausea and vomiting, Thiamine-respon...	ORPHA:85138
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P...	OMIM:300367
Pulmonary Non-Tuberculous Mycobacterial Infection	Mycobacterium abscessus abscessus infection, Diarrhea, Disseminated nontuberculous mycobacterial ...	ORPHA:411703
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Dysmetria, Hemiplegia/hemiparesis, Tremor, Arrhythmia, Abnormal pyra...	ORPHA:96
Nijmegen Breakage Syndrome	Recurrent pneumonia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Recurr...	OMIM:251260
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Generalized dystonia, Tremor, Elevated circulating creatine kinase concentration, Abn...	OMIM:614298
Lumbar Syndrome	Bifid scrotum, Myelomeningocele, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, M...	ORPHA:83628
Perry Syndrome	Hypotension, Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Chime Syndrome	Acute leukemia, Osteolysis	ORPHA:3474
Blue Rubber Bleb Nevus	Intestinal bleeding, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Congenital Disorder Of Glycosylation, Type Id	Vomiting, Diarrhea, Failure to thrive, Hypertonia, Spastic tetraparesis	OMIM:601110
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Failure to thrive, Abnormality o...	ORPHA:90794
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Radiation Proctitis	Hematochezia, Arteritis, Sepsis, Diarrhea, Tenesmus, Intestinal obstruction, Abdominal pain, Cons...	ORPHA:70475
Neuroendocrine Neoplasm Of Appendix	Hypotension, Elevated circulating hepatic transaminase concentration, Abdominal colic, Protracted...	ORPHA:100079
Tufted Angioma	Anemia, Purpura, Petechiae, Thrombocytopenia	ORPHA:1063
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Tremor, Opisthotonus, Methemoglobinemia, Hypertonia, Decreased circulating nicotina...	OMIM:250800
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig...	OMIM:600116
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Abnormal circulating biopterin concentration, Abnormal circulating...	OMIM:612716
Vascular Hyalinosis	Malabsorption, Hematochezia, Diarrhea, Subarachnoid hemorrhage	OMIM:277175
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia	OMIM:620365
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Second degree atrioventricular block, Periodic hypokalemic paresis, Hypomag...	ORPHA:79102
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Failure to thrive, Hypokalemia, Hyponatremia, Abdominal distention, Hypochlor...	OMIM:214700
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology	OMIM:606353
Melas	Ataxia, Dilated cardiomyopathy, Diarrhea, Failure to thrive, Cardiomyopathy, Concentric hypertrop...	ORPHA:550
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea	OMIM:146255
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Sarcoidosis	Arrhythmia, Weight loss, Erythema nodosum, Hepatomegaly, Tubulointerstitial nephritis, Heart bloc...	ORPHA:797
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Myoclonus, Abnormal platelet morpho...	ORPHA:46059
Immunodeficiency 55	Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent...	OMIM:617827
Niemann-Pick Disease Type C	Aspiration pneumonia, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal...	ORPHA:646
Congenital Short Bowel Syndrome	Decreased intestinal transit time, Vomiting, Failure to thrive, Abnormal peristalsis, Abdominal d...	OMIM:615237
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Glucose/Galactose Malabsorption	Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea	OMIM:606824
Igg4-Related Pachymeningitis	Eosinophilia, Parotitis	ORPHA:449427
Pancreatoblastoma	Vomiting, Diarrhea, Pancreatic calcification, Abdominal pain, Weight loss, Abdominal distention, ...	ORPHA:677
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, Tremor, Elevated ...	OMIM:610505
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Female infertility, Streak ovary, Decreased fertility, Polycystic ovaries, Oligomenorrhea, Premat...	ORPHA:572333
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Elbow flexion contracture, Joint stiffness, Acroosteolysis of distal phalanges (feet)...	OMIM:248370
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Diarrhea 11, Malabsorptive, Congenital	Diarrhea	OMIM:618662
Thrombocytopenia 2	Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo...	OMIM:188000
Bile Acid Malabsorption, Primary, 1	Steatorrhea, Chronic diarrhea, Fat malabsorption, Failure to thrive	OMIM:613291
Gitelman Syndrome	Diarrhea, Nausea and vomiting, Tubulointerstitial nephritis, Ventricular fibrillation, Abdominal ...	ORPHA:358
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Tetraparesis, Pancytopenia, Leukopenia, Abnormal circulating enzyme concentrat...	ORPHA:2785
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, Torsion dyst...	OMIM:128100
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral arteriovenous malformation, Cerebral...	OMIM:600376
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Failure to thrive, Increase...	ORPHA:85410
Erythermalgia, Primary	Diarrhea, Xerostomia, Palpitations, Keratoconjunctivitis sicca, Constipation	OMIM:133020
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ...	ORPHA:99750
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Intestinal bleeding, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function...	OMIM:612199
Lissencephaly, X-Linked, 2	Spasticity, Diarrhea, Feeding difficulties in infancy	OMIM:300215
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Vomiting, Failure to thrive, Anorexia, Hyperammonemia, Tremor, Hyper...	ORPHA:3008
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Recurrent upper respiratory tract infections, Secretory diarrhea, ...	OMIM:618183
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Spastic paraplegia, Bacterial endocarditis, Abnormality of the ...	ORPHA:2072
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Hermansky-Pudlak Syndrome 5	Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de...	OMIM:614074
Inflammatory Bowel Disease (Crohn Disease) 30	Vomiting, Esophagitis, Pancolitis, Gastritis, Abdominal pain, Chronic diarrhea, Bloody diarrhea	OMIM:619079
Juvenile Polyposis Syndrome	Abnormal onset of bleeding, Gastrointestinal hemorrhage, Hematochezia, Brain abscess, Failure to ...	ORPHA:2929
Hereditary Hemorrhagic Telangiectasia	Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Tongue telangiectasia, Congestive hea...	ORPHA:774
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie...	OMIM:618268
Metachromatic Leukodystrophy	Progressive spasticity, Decerebrate rigidity, Incoordination, Abnormal circulating enzyme concent...	ORPHA:512
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased heart rate variability, Chronic constipation, Decreased body weight, Thrombocytopenia, ...	OMIM:619005
Erythroderma Desquamativum	Diarrhea, Seborrheic dermatitis, Failure to thrive	ORPHA:314
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Esophagitis, Intestinal obstruction, Episodi...	ORPHA:913
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Subdural hemorrhage, Chorea, Abnormal circulating enzyme concentration o...	ORPHA:25
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Malnutrition, Protracted diarrhea	OMIM:251850
Rapadilino Syndrome	Diarrhea, Feeding difficulties	OMIM:266280
Infantile-Onset X-Linked Spinal Muscular Atrophy	Abnormal anterior horn cell morphology, Cryptorchidism, Degeneration of anterior horn cells	ORPHA:1145
Paroxysmal Cold Hemoglobinuria	Diarrhea, Nausea and vomiting, Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia, Rec...	ORPHA:90035
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Abnormal circulating biopterin concentration, Hypomagnesemia, ...	ORPHA:1578
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
African Trypanosomiasis	Diarrhea, Hepatosplenomegaly, Hemiparesis, Arrhythmia, Weight loss, Hepatomegaly, Jaundice, Chore...	ORPHA:3385
Dyskeratosis Congenita, Autosomal Dominant 3	Ataxia, Gastrointestinal hemorrhage, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia...	OMIM:613990
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia	OMIM:224500
Trichothiodystrophy 5, Nonphotosensitive	Recurrent infections, Chronic decreased circulating IgG1, Gait ataxia, Chronic diarrhea	OMIM:300953
Hoyeraal-Hreidarsson Syndrome	Failure to thrive, Abnormal leukocyte morphology, Thrombocytopenia, Ataxia, Anemia, Hypertonia	ORPHA:3322
Igg4-Related Ophthalmic Disease	Sialadenitis, Orchitis, Eosinophilia, Prostatitis, Abnormality of the anterior pituitary, Enlarge...	ORPHA:449563
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology	ORPHA:275872
Mucopolysaccharidosis, Type Iiid	Recurrent upper respiratory tract infections, Diarrhea, Recurrent otitis media, Mitral regurgitat...	OMIM:252940
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Hepatic sinusoidal dilatation, Spastic tetraparesis, Tricuspid regurgitation, Splenic...	OMIM:620371
Hurler Syndrome	Spastic paraparesis, Cardiomyopathy, Cerebral palsy, Splenomegaly, Angina pectoris, Rhinitis, Abn...	ORPHA:93473
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Weight loss, Apr...	OMIM:137440
Telangiectasia, Hereditary Hemorrhagic, Type 4	Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc...	OMIM:610655
Dyskeratosis Congenita	Hepatic failure, Blepharitis, Periodontitis, Recurrent respiratory infections, Malabsorption, Spl...	ORPHA:1775
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Failure to thrive, Hypertrophic cardiomyopathy, Gastroparesis, Hyperammonemia, Tremor, Intention ...	OMIM:614052
Rothmund-Thomson Syndrome	Diarrhea, Aplastic anemia, Vomiting, Malar rash, Skin rash, Anemia, Telangiectasia of the skin, N...	ORPHA:2909
Reactive Arthritis	Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infe...	ORPHA:29207
Thrombocytopenia 10	Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou...	OMIM:620484
Townes-Brocks Syndrome 2	Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias	OMIM:617466
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Failure to thrive, Large for gestational age, Thrombocytopenia, Neutropenia, Anemia	OMIM:614520
Ogden Syndrome	Diarrhea, Torsade de pointes, Recurrent otitis media, Hyperbilirubinemia, Premature ventricular c...	OMIM:300855
Systemic Lupus Erythematosus	Discoid lupus rash, Anorexia, Leukopenia, Chorea, Malar rash, Hypertension, Weight loss, Lupus ne...	ORPHA:536
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Recurrent otitis media, Lymphopenia, Obesity, Pancytopenia, Leukopenia, Feeding difficulties, Thr...	OMIM:620654
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Congestive heart failure, Cerebral ischemia, High-output congestive heart failure, Tel...	ORPHA:137667
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Neuromuscular dysphagia, Progressive extrapyramidal muscular rigidity, Axial dysto...	ORPHA:240071
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Lower limb spasticity, Thrombocytopenia, Ventricular arrhythmia, Increased...	OMIM:620475
Lipodystrophy, Familial Partial, Type 7	Diarrhea, Dysdiadochokinesis, Failure to thrive, Vomiting, Gait ataxia, Dysmetria, Babinski sign,...	OMIM:606721
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord	ORPHA:35689
Inhalational Botulism	Diarrhea, Xerostomia, Nausea and vomiting, Paralysis, Constipation	ORPHA:254504
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Failure to thrive in infancy, Feeding difficulties in infancy, Thrombocytopenia,...	OMIM:611209
Parkinson Disease, Late-Onset	Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Constipation, Dystonia, Dysphagia	OMIM:168600
Congenital Myopathy 20	Chronic diarrhea, Frequent falls, Failure to thrive	OMIM:620310
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Encephalitis Lethargica	Recurrent viral infections, Tremor, Increased circulating antibody level, Parkinsonism, Bradycard...	ORPHA:83600
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi...	OMIM:300835
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia, Abdomina...	ORPHA:31150
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Hypopituitari...	ORPHA:226307
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:29072
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Weight loss, Keratoconjunctivitis si...	ORPHA:309031
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro...	OMIM:154230
Igg4-Related Kidney Disease	Eosinophilia, Prostatitis, Abnormality of the anterior pituitary, Sialadenitis	ORPHA:449395
Visceral Myopathy 1	Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Constipation, Pan...	OMIM:155310
Alexander Disease	Hypotension, Spasticity, Failure to thrive, Chorea, Nausea and vomiting, Tremor, Infectious encep...	ORPHA:58
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Malabsorption, Intestinal obstruction, Telangiectasia, Keratocon...	OMIM:601675
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Petechiae, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia, Purpura	OMIM:605432
Multiple Endocrine Neoplasia Type 1	Reduced bone mineral density, Increased susceptibility to fractures, Osteolysis	ORPHA:652
Nk-Cell Enteropathy	Hematochezia, Diarrhea, Gastroesophageal reflux, Increased T cell count, Constipation, Abdominal ...	ORPHA:263665
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Failure to thrive, Diarrhea, Hypomagnesemia, ...	OMIM:601678
Paroxysmal Nocturnal Hemoglobinuria 2	Abdominal pain, Diarrhea, Hemolytic anemia	OMIM:615399
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Deeah Syndrome	Exocrine pancreatic insufficiency, Malabsorption, Decreased heart rate variability, Chronic const...	OMIM:619004
Hypermobile Ehlers-Danlos Syndrome	Limitation of joint mobility, Joint hypermobility, Osteoarthritis, Acrocyanosis, Osteolysis	ORPHA:285
Braddock-Carey Syndrome 1	Thrombocytopenia, Spastic diplegia	OMIM:619980
Noonan Syndrome 4	Abnormal bleeding, Bruising susceptibility, Hypertrophic cardiomyopathy, Large for gestational ag...	OMIM:610733
Diamond-Blackfan Anemia 21	Aortic regurgitation, Obesity, Erythroid hypoplasia, Thrombocytopenia, Anemia, Chronic diarrhea	OMIM:620072
Niemann-Pick Disease, Type C1	Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:257220
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Abdominal distention, Hepatitis, Psoriasiform dermatitis, Autoimmune hemolyti...	ORPHA:436252
Fanconi Anemia, Complementation Group E	Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, ...	OMIM:600901
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Thrombocytopenia...	ORPHA:261250
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus, Short stature	OMIM:617914
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Disproportionate short-limb short stature, Hypergonadotropic hypogonadi...	OMIM:609441
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Chronic Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Diarrhea, Xerostomia, Urinary bladder in...	ORPHA:99921
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Tremor, Clonus, Neutropenia, Bradycardia, Hypertonia, Jaundice, Dystonia, Dysp...	OMIM:617248
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Failure to thrive, Diarrhea, Hypomagnesemia, ...	OMIM:241200
Imerslund-Grasbeck Syndrome 2	Anemia, Diarrhea, Megaloblastic anemia, Recurrent urinary tract infections	OMIM:618882
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology	OMIM:607225
Mucopolysaccharidosis Type 3	Vocal cord paresis, Atrioventricular block, Recurrent tonsillitis, Spasticity, Aspiration pneumon...	ORPHA:581
Fanconi Anemia, Complementation Group A	Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, ...	OMIM:227650
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Weight loss, Small for gestational age, Hand tremor	ORPHA:424
Rothmund-Thomson Syndrome Type 1	Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Functional abnormality of the gast...	ORPHA:221008
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus, Primary amenorrhea	ORPHA:785
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Severe postnatal growth retardation, Vag...	ORPHA:2237
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Distal Renal Tubular Acidosis	Diarrhea, Vomiting, Failure to thrive, Hypokalemia, Paralysis, Constipation, Hemolytic anemia, Po...	ORPHA:18
Turcot Syndrome With Polyposis	Hematochezia, Melena, Diarrhea, Vomiting, Nausea, Hepatoblastoma, Constipation, Ataxia, Leukemia,...	ORPHA:99818
Dubowitz Syndrome	Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Eczematoid dermatitis,...	OMIM:223370
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Arrhythmia, Abdominal pain, Anorexia,...	ORPHA:139411
Autosomal Recessive Malignant Osteopetrosis	Bruising susceptibility, Splenomegaly, Hypocalcemia, Tremor, Otitis media, Chronic rhinitis, Anem...	ORPHA:667
22Q11.2 Deletion Syndrome	Parkinsonism, Feeding difficulties in infancy, Purpura, Chronic otitis media, Bowel incontinence,...	ORPHA:567
Thrombocytopenia 6	Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis	OMIM:616937
17Q11 Microdeletion Syndrome	Osteopenia, Thickened cortex of long bones, Leukemia, Osteoporosis, Osteolysis	ORPHA:97685
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Thrombocytopenia, Anemia, Heart murmur, Int...	ORPHA:163979
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later...	OMIM:606070
Peutz-Jeghers Syndrome	Intestinal bleeding, Bile duct polyp, Bloody diarrhea, Biliary tract abnormality, Iron deficiency...	OMIM:175200
Meningioma	Secondary growth hormone deficiency, Decreased serum estradiol, Hypothalamic hypothyroidism, Pitu...	ORPHA:2495
21Q22.11Q22.12 Microdeletion Syndrome	Failure to thrive in infancy, Recurrent otitis media, Feeding difficulties in infancy, Thrombocyt...	ORPHA:261323
Parkes Weber Syndrome	Abnormal circulating B-type natriuretic peptide concentration, High-output congestive heart failu...	ORPHA:90307
Diaphanospondylodysostosis	Protuberant abdomen, Abnormal liver lobulation	OMIM:608022
Acquired Hypertrichosis Lanuginosa	Weight loss, Chronic diarrhea, Poor appetite	ORPHA:2221
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Ataxia, Recurrent infections, Pulmonic stenosis, Increased mean platelet volume	OMIM:616737
Proprotein Convertase 1/3 Deficiency	Obesity, Diarrhea, Malabsorption	OMIM:600955
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Increased circulating IgG4 level, Myositis, Weight loss, Increased circulating IgA le...	ORPHA:79078
Turner Syndrome Due To Structural X Chromosome Anomalies	Female infertility, Abnormality of the ovary, Failure to thrive in infancy, Obesity, Intrauterine...	ORPHA:99413
Mosaic Monosomy X	Female infertility, Abnormality of the ovary, Failure to thrive in infancy, Obesity, Intrauterine...	ORPHA:99228
Monosomy X	Female infertility, Abnormality of the ovary, Failure to thrive in infancy, Obesity, Intrauterine...	ORPHA:99226
Turner Syndrome	Female infertility, Abnormality of the ovary, Failure to thrive in infancy, Obesity, Intrauterine...	ORPHA:881
Progressive Multifocal Leukoencephalopathy	Abnormal oligodendroglia morphology	ORPHA:217260
Woodhouse-Sakati Syndrome	Hypogonadism, Decreased testicular size, Streak ovary, Delayed puberty, Abnormal spermatogenesis,...	ORPHA:3464
Recon Progeroid Syndrome	Anemia, Recurrent infections, Keratoconjunctivitis sicca, Thrombocytopenia	OMIM:620370
Fanconi Anemia, Complementation Group C	Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, ...	OMIM:227645
Acrodermatitis Enteropathica	Failure to thrive, Malabsorption, Chronic diarrhea, Pustule, Weight loss, Anorexia, Conjunctiviti...	ORPHA:37
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233710
Thrombocytopenia 3	Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia	OMIM:273900
Digeorge Syndrome	Cholelithiasis, Recurrent pneumonia, Gastroesophageal reflux, Recurrent otitis media, Obesity, Sp...	OMIM:188400
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss, Hand tremor	ORPHA:99819
Meckel Syndrome 12	Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus	OMIM:616258
Infantile Systemic Hyalinosis	Failure to thrive, Malabsorption, Telangiectasia of the skin, Recurrent bacterial infections, Chr...	ORPHA:2176
Fanconi Anemia, Complementation Group D2	Annular pancreas, Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, ...	OMIM:227646
Fanconi Anemia, Complementation Group F	Pneumonia, Failure to thrive, Leukopenia, Thrombocytopenia, Anemia	OMIM:603467
Down Syndrome	Gastroesophageal reflux, Polycythemia, Obesity, Acute megakaryocytic leukemia, Chronic constipati...	ORPHA:870
Rothmund-Thomson Syndrome Type 2	Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Functional abnormality of the gast...	ORPHA:221016
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Maternal Uniparental Disomy Of Chromosome 6	Eczematoid dermatitis, Thrombocytopenia	ORPHA:96181
Oculopharyngodistal Myopathy 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Tremor, Elev...	OMIM:164310
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Failure to thrive, Otitis media, Constipation, Intermittent diarrhea, Feeding difficulties	OMIM:618050
Atelis Syndrome 2	Gastroesophageal reflux, Dysmetria, Vitreous hemorrhage, Thrombocytopenia, Anemia, Supravalvar pu...	OMIM:620185
Nijmegen Breakage Syndrome	Acute leukemia, Recurrent pneumonia, Autoimmune hemolytic anemia, Cachexia, Recurrent sinopulmona...	ORPHA:647
Niemann-Pick Disease, Type C2	Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:607625
Oculocerebrorenal Syndrome Of Lowe	Gastroesophageal reflux, Periodontitis, Failure to thrive, Malabsorption, Hyponatremia, Hypokalem...	ORPHA:534
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233690
Multiple Endocrine Neoplasia, Type I	Diarrhea, Insulinoma, Esophagitis, Pancreatic islet cell adenoma, Hypercalcemia	OMIM:131100
Oeis Complex	Myelomeningocele, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitali...	OMIM:258040
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Sea-blue histiocytosis	OMIM:230600
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia	ORPHA:3320
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Anterior pituita...	ORPHA:227990
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Cerebrotendinous Xanthomatosis	Cholelithiasis, Spasticity, Spastic paraparesis, Resting tremor, Abnormal circulating enzyme conc...	ORPHA:909
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Spina bifida occulta, Hyp...	OMIM:119500
Dubowitz Syndrome	Recurrent infections, Eczematoid dermatitis, Malabsorption, Chronic diarrhea, Thrombocytopenia, A...	ORPHA:235
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Mitral regurgitation, Telangiectasia, Cerebral arteriovenous malformation	OMIM:175050
Alg9-Cdg	Periportal fibrosis, Diarrhea, Vomiting, Gastroesophageal reflux, Tricuspid regurgitation, Hepati...	ORPHA:79328
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Elevated circulating hepatic transaminase concentration, Sepsis, Inflammatory abnormal...	ORPHA:95455
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Aspartylglucosaminuria	Spasticity, Diarrhea, Mitral regurgitation, Reduced tissue aspartylglucosaminidase activity, Neut...	OMIM:208400
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later...	OMIM:205100
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Acanthocytosis, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis...	OMIM:234200
19P13.13 Microdeletion Syndrome	Vomiting, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdominal pain, Feeding...	ORPHA:357001
Dyskeratosis Congenita, X-Linked	Pancytopenia, Leukopenia, Acute myeloid leukemia, Cirrhosis, Thrombocytopenia, Ataxia, Anemia, Co...	OMIM:305000
Houge-Janssens Syndrome 1	Chronic diarrhea, Gait ataxia	OMIM:616355
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Intrauterine growth retardation, Delayed puberty, Short stature, Hypoplasia of the uterus, Growth...	OMIM:615866
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Anterior pituita...	ORPHA:227982
Phace Syndrome	Retinal vascular malformation, Cerebral arteriovenous malformation, Optic nerve hypoplasia	ORPHA:42775
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Diarrhea, Palpitations, Hypertension associated with pheochromocytoma, Neopl...	ORPHA:653
Multiple Endocrine Neoplasia Type 4	Diarrhea, Insulinoma, Esophagitis, Episodic abdominal pain, Abnormality of pancreas physiology, H...	ORPHA:276152
Woodhouse-Sakati Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Premature ovarian insuffici...	OMIM:241080
Jacobsen Syndrome	Spasticity, Annular pancreas, Failure to thrive, Thrombocytopenia, Recurrent respiratory infections	OMIM:147791
Steinert Myotonic Dystrophy	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, ...	ORPHA:273
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Diabetes mellitus, Decreased serum leptin, Hypertriglyceridemia	ORPHA:280365
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Gastroesophageal reflux, Failure to thrive, Chronic diarrhea, Chronic constipation, Feeding diffi...	ORPHA:500055
Granulomatous Disease, Chronic, X-Linked	Granuloma, Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:306400
Nmda Receptor Encephalitis	Involuntary movements, Oculogyric crisis, Diarrhea, Vomiting, Chorea, Myoclonus, Rigidity, Opisth...	ORPHA:217253
Malakoplakia	Inflammatory abnormality of the skin, Abnormal bleeding, Diarrhea, Urinary bladder inflammation, ...	ORPHA:556
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Azoospermia, Hepato...	OMIM:602782
Microvillus Inclusion Disease	Diarrhea, Abdominal distention, Hypovolemia	ORPHA:2290
Bcard Syndrome	Arterial rupture, Bruising susceptibility, Thrombocytopenia	OMIM:612394
Jacobsen Syndrome	Aortic valve stenosis, Annular pancreas, Eczematoid dermatitis, Feeding difficulties in infancy, ...	ORPHA:2308
Mosaic Trisomy 9	Asplenia, Abnormal liver lobulation	ORPHA:99776
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Spasticity, Vomiting, Failure to thrive, Hypertrophic cardiomyopathy, Mitral regurgitation, Hyper...	OMIM:220111
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Malabsorption, Cachexia, Steatorrhea, Chronic diarrhea	ORPHA:3217
Parkinson Disease 20, Early-Onset	Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia, Dy...	OMIM:615530
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus, Anemia, Bone marrow hypocellularity	OMIM:614083
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Ivic Syndrome	Arrhythmia, Leukocytosis, Thrombocytopenia	ORPHA:2307
Tropical Endomyocardial Fibrosis	Eosinophilia, Splenomegaly	ORPHA:75565
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Limited hip movement, Joint stiffness, Limitation of movement at an...	ORPHA:740
Hereditary Angioedema Type 1	Hypotension, Diarrhea, Vomiting, Nausea, Abdominal pain, Dysphagia	ORPHA:100050
Meckel Syndrome 14	Aplasia of the uterus, Ambiguous genitalia, Occipital encephalocele	OMIM:619879
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Diarrhea, Bruising susceptibility, Pancreatic adenocarcinoma, Lymphopenia, Anorexia, Capill...	ORPHA:99889
Middle Ear Neuroendocrine Tumor	Chronic diarrhea	ORPHA:100084
Cushing Disease	Lymphopenia, Leukocytosis, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Decreased e...	ORPHA:96253
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Vomit...	ORPHA:79318
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Exstrophy-Epispadias Complex	Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys...	ORPHA:322
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Fanconi Anemia	Recurrent urinary tract infections, Hypertrophic cardiomyopathy, Abnormality of the liver, Leukop...	ORPHA:84
Phocomelia, Schinzel Type	Disproportionate short stature, Intrauterine growth retardation, Cryptorchidism, Aplasia of the u...	ORPHA:2879
Lipodystrophy, Congenital Generalized, Type 1	Decreased serum leptin, Hyperinsulinemia, Hypertriglyceridemia, Diabetes mellitus, Insulin-resist...	OMIM:608594
Viss Syndrome	Hypereosinophilia, Umbilical hernia	OMIM:619472
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Vascular Ehlers-Danlos Syndrome	Osteolysis, Osteoarthritis, Joint hypermobility	ORPHA:286
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Short stature, Micropenis, Hypoplasia of the uterus, Hy...	OMIM:309801
Atypical Werner Syndrome	Limitation of joint mobility, Sclerosis of hand bone, Osteolytic defects of the phalanges of the ...	ORPHA:79474
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Hypoplastic labia majora, Short stature, Hypoplasia of the uterus, Small for ...	OMIM:618419
Proximal Renal Tubular Acidosis	Diarrhea, Vomiting, Failure to thrive, Malabsorption, Hypokalemia, Hypovolemia, Bicarbonaturia	ORPHA:47159
Cornelia De Lange Syndrome 1	Pneumonia, Gastroesophageal reflux, Otitis media, Hypertonia, Thrombocytopenia	OMIM:122470
Pseudoaminopterin Syndrome	Synostosis of carpal bones, Limited elbow movement, Sagittal craniosynostosis, Patchy reduction o...	ORPHA:221120
Alport Syndrome 1, X-Linked	Nephritis, Hypertension, Thrombocytopenia	OMIM:301050
Microphthalmia, Syndromic 9	Severe short stature, Intrauterine growth retardation, Cryptorchidism, Short stature, Hypoplasia ...	OMIM:601186
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno...	OMIM:618280
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Short stature, Unicor...	OMIM:614527
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary, Primary amenorrhea	ORPHA:69085
Lipodystrophy, Congenital Generalized, Type 2	Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Insuli...	OMIM:269700
Mucopolysaccharidosis Type 2, Severe Form	Recurrent upper respiratory tract infections, Cardiomyopathy, Hepatosplenomegaly, Abnormal circul...	ORPHA:217085
Granulomatosis With Polyangiitis	Granulomatosis	OMIM:608710
Neonatal Inflammatory Skin And Bowel Disease	Chapped lip, Bloody diarrhea, Psoriasiform dermatitis, Recurrent gastroenteritis, Pustule, Recurr...	ORPHA:294023
Mucopolysaccharidosis Type 2, Attenuated Form	Recurrent upper respiratory tract infections, Cardiomyopathy, Hepatosplenomegaly, Abnormal circul...	ORPHA:217093
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple	ORPHA:1521
Angioedema, Hereditary, 1	Abdominal pain, Vomiting, Diarrhea	OMIM:106100
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Trichorhinophalangeal Syndrome, Type Ii	Recurrent pneumonia, Recurrent otitis media, Chronic gastritis, Cerebral arteriovenous malformati...	OMIM:150230
Osteogenesis Imperfecta	Aortic regurgitation, Ataxia, Bruising susceptibility, Tetraparesis, Intestinal obstruction, Cons...	ORPHA:666
Rett Syndrome	Increased serum leptin	ORPHA:778
Helsmoortel-Van Der Aa Syndrome	Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract infections, Obesity, Mitral r...	OMIM:615873
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology	OMIM:601162
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Recurrent upper respiratory tract infections, Cardiomyopathy, Splenomegaly, A...	ORPHA:580
Wolf-Hirschhorn Syndrome	Precocious puberty, Growth delay, Failure to thrive, Intrauterine growth retardation, Cryptorchid...	OMIM:194190
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Chronic diarrhea, Ataxia	ORPHA:457279
Occipital Horn Syndrome	Bruising susceptibility, Chronic diarrhea, Orthostatic hypotension, Decreased circulating cerulop...	OMIM:304150
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Recurrent infections, Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Seborrheic dermatitis, Acne, Secretory diarrhea	OMIM:167100
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Spasticity, Gastroesophageal reflux, Failure to thrive in infanc...	ORPHA:500150
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Diarrhea, Constipation	OMIM:162300
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria...	OMIM:201750
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea	OMIM:226730
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Pancreatic hypoplasia, Failure to thrive, Exocrine pancreatic insufficiency, Feeding difficulties...	ORPHA:2255
Zttk Syndrome	Aortic regurgitation, Spasticity, Failure to thrive, Absent gallbladder, Feeding difficulties in ...	OMIM:617140
Renal Cysts And Diabetes Syndrome	Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua...	OMIM:137920
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Recurrent pneumonia, Sepsis, Failure to thrive, Chapped lip, Chronic diarrhea, Recurre...	ORPHA:158668
Granulomatosis With Polyangiitis	Prostatitis, Granulomatosis	ORPHA:900
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Secretory diarrhea, Abdominal distention	OMIM:270420
Norrie Disease	Failure to thrive, Uterine rupture, Cryptorchidism, Cachexia, Delayed puberty, Erectile dysfunction	ORPHA:649
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Anencephaly, Adrenal gland dysgenesis, Bifid uterus...	OMIM:236680
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Anemia, Cervical insufficiency	OMIM:130050
Noonan Syndrome 1	Abnormal bleeding, Juvenile myelomonocytic leukemia, Bruising susceptibility, Failure to thrive i...	OMIM:163950
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Postnatal growth retardation, Intrauterine growth retardation, Cryptorchidi...	OMIM:135900
Dermatomyositis	Abnormal eosinophil morphology	ORPHA:221
Keppen-Lubinsky Syndrome	Decreased serum leptin	OMIM:614098
Neu-Laxova Syndrome 1	Hydranencephaly, Small placenta, Cryptorchidism, Short umbilical cord, Spina bifida, Bifid uterus	OMIM:256520
Okamoto Syndrome	Bifid uterus, Severe postnatal growth retardation	ORPHA:2729
Peters-Plus Syndrome	Rhizomelia, Disproportionate short-limb short stature, Postnatal growth retardation, Intrauterine...	OMIM:261540
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Townes-Brocks Syndrome 1	Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa...	OMIM:107480
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Occipital meningocele, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced...	OMIM:276820
Peters Plus Syndrome	Rhizomelia, Disproportionate short-limb short stature, Postnatal growth retardation, Intrauterine...	ORPHA:709
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Pallister-Killian Syndrome	Small scrotum, Rhizomelia, Growth delay, Obesity, Mesomelic/rhizomelic limb shortening, Cryptorch...	OMIM:601803
Meconium Ileus	Chronic diarrhea, Meconium ileus	OMIM:614665
Omphalocele Syndrome, Shprintzen-Goldberg Type	Feeding difficulties in infancy, Gastroesophageal reflux, Chronic diarrhea	ORPHA:3164

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 Lif

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 Lif.

There are 9 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Leukemia inhibitory factor suppresses hepatic de novo lipogenesis and induces cachexia in mice.	Nature communications (January 2024)	Lifr^{tm1c(EUCOMM)Hmgu}	PMC10799847
Epithelial LIF signaling limits apoptosis and lung injury during bacterial pneumonia.	American journal of physiology. Lung cellular and molecular physiology (February 2022)	Lifr^{tm1a(EUCOMM)Hmgu}	35137631
gp130/STAT3 signaling is required for homeostatic proliferation and anabolism in postnatal growth plate and articular chondrocytes.	Communications biology (January 2022)	Lifr^{tm1c(EUCOMM)Hmgu}	35039652
Leukemia inhibitory factor-receptor signalling negatively regulates gonadotrophin-stimulated testosterone production in mouse Leydig Cells.	Molecular and cellular endocrinology (January 2022)	Lifr^{tm1c(EUCOMM)Hmgu}	35031431
Uterine Epithelial LIF Receptors Contribute to Implantation Chamber Formation in Blastocyst Attachment.	Endocrinology (November 2021)	Lifr^{tm1a(EUCOMM)Hmgu}	34402888
LIFR-α-dependent adipocyte signaling in obesity limits adipose expansion contributing to fatty liver disease.	iScience (February 2021)	Lifr^{tm1a(EUCOMM)Hmgu}	PMC7970148
Leukemia Inhibitory Factor Inhibits Plasmacytoid Dendritic Cell Function and Development.	Journal of immunology (Baltimore, Md. : 1950) (March 2020)	Lifr^{tm1c(EUCOMM)Hmgu} Lifr^{tm1a(EUCOMM)Hmgu} Lifr^{tm1b(EUCOMM)Hmgu}	32169845
Targeting LIF-mediated paracrine interaction for pancreatic cancer therapy and monitoring.	Nature (April 2019)	Lifr^{tm1a(EUCOMM)Hmgu}	PMC6565370
Leukemia Inhibitory Factor-Receptor is Dispensable for Prenatal Testis Development but is Required in Sertoli cells for Normal Spermatogenesis in Mice.	Scientific reports (August 2018)	Lifr^{tm1b(EUCOMM)Hmgu} Lifr^{tm1c(EUCOMM)Hmgu}	PMC6070476

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MGI Allele	Allele Type	Produced
Lif^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Lif^{tm257170(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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