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 (1388 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
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I	ORPHA:488191
Premature Ovarian Failure 19	Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency	OMIM:619245
Immunodeficiency 88	Eosinophilia	OMIM:619630
Oocyte Maturation Defect 9	Female infertility, Oocyte arrest at metaphase I	OMIM:619011
Oocyte Maturation Defect 2	Female infertility, Oocyte arrest at metaphase I	OMIM:616780
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	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 Maturation Defect 8	Female infertility	OMIM:619009
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Patchy reduction of bone mineral density	ORPHA:57196
Papular Xanthoma	Histiocytosis	ORPHA:158008
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia	OMIM:131400
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu...	OMIM:202700
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Immunodeficiency 48	Hepatomegaly, Eczematoid dermatitis, Pneumonia, Failure to thrive, Splenomegaly, Panhypogammaglob...	OMIM:269840
Episodic Ataxia, Type 1	Babinski sign, Elevated circulating creatine kinase concentration, Spastic gait, Tremor, Slurred ...	OMIM:160120
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Hyaline Fibromatosis Syndrome	Progressive flexion contractures, Osteoporosis, Osteolysis, Osteopenia	OMIM:228600
Oocyte Maturation Defect 11	Female infertility	OMIM:619643
Oocyte Maturation Defect 7	Female infertility	OMIM:618550
Oocyte Maturation Defect 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Preimplantation Embryonic Lethality 1	Female infertility	OMIM:616814
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Ring Chromosome Y Syndrome	Hypospadias, Bifid scrotum, Short stature, Abnormality of the male genitalia, Ambiguous genitalia...	ORPHA:261529
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia	ORPHA:517
Immunodeficiency 69	Thrombocytosis, Leukocytosis, BCGosis, Failure to thrive, Anemia, Splenomegaly, Increased circula...	OMIM:618963
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Failure to thrive, Recurrent otitis media, Splenomegaly, Recurrent urinary tract in...	OMIM:618495
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Failure to...	OMIM:613501
Eosinophil Peroxidase Deficiency	Abnormal eosinophil morphology	OMIM:261500
Mu-Heavy Chain Disease	Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Increased circulating antibody level, ...	ORPHA:100024
Hemochromatosis, Neonatal	Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,...	OMIM:231100
Immunodeficiency 7	Hypereosinophilia	OMIM:615387
Immunodeficiency 19	Failure to thrive, Recurrent otitis media, Lymphopenia, Recurrent respiratory infections, Diarrhea	OMIM:615617
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence...	ORPHA:572
Ovarian Dysgenesis 2	Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o...	OMIM:300510
Ovarian Dysgenesis 7	Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus	OMIM:618117
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Hepatomegaly, Eczema, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary ...	OMIM:608971
Familial Expansile Osteolysis	Thin bony cortex, Osteolysis, Pathologic fracture	OMIM:174810
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Feeding difficulties in infancy, Hepatocellular necrosis, Vomiting, Failure to thri...	OMIM:251880
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Osteolysis	ORPHA:158014
Macrosomia Adiposa Congenita	Eosinophilia	OMIM:248100
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Splenomegaly	OMIM:607685
Eales Disease	Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo...	ORPHA:40923
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Hepatic fibrosis, Vomiting, Hepatic necrosis, Elevated alpha-fetoprotein, Abdominal...	ORPHA:33402
Ovarian Dysgenesis 5	Primary amenorrhea, Short stature, Hypoplasia of the uterus	OMIM:617690
Central Retinal Vein Occlusion	Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza...	ORPHA:411527
Vitreoretinopathy, Neovascular Inflammatory	Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret...	OMIM:193235
Familial Exudative Vitreoretinopathy	Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino...	ORPHA:891
Exudative Vitreoretinopathy 2, X-Linked	Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret...	OMIM:305390
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Recurrent infections, Splenomeg...	OMIM:615285
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis	ORPHA:970
Histiocytosis, Familial Lipochrome	Histiocytosis	OMIM:235900
Autosomal Recessive Distal Osteolysis Syndrome	Osteolysis	ORPHA:2776
Winchester Syndrome	Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize...	OMIM:277950
Carcinoid Syndrome	Right ventricular failure, Nausea and vomiting, Facial telangiectasia, Protracted diarrhea, Palpi...	ORPHA:100093
Juvenile Hyaline Fibromatosis	Joint stiffness, Progressive flexion contractures, Osteolysis	ORPHA:2028
Kimura Disease	Abnormal salivary gland morphology, Eosinophilia	ORPHA:482
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent herpes, Hepatitis, Recurrent infections, Decreased proportion of CD3-positive T cells, ...	ORPHA:169160
Retinal Venous Beading	Retinal infarction, Nephritis, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunct...	OMIM:180080
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Bloody diarrhea, Anemia, Elevated circulating C-reactive protein concentration, Ulc...	OMIM:619398
Premature Ovarian Failure 6	Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins...	OMIM:612310
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Feeding difficulties in infancy, Failure to thrive, Reduced natural killer cell ...	OMIM:616050
Halothane Hepatitis	Eosinophilia	OMIM:234350
African Iron Overload	Hepatomegaly, Chronic infection, Hepatic fibrosis, Elevated hepatic iron concentration, Peritonit...	ORPHA:139507
Uterine Anomalies	Abnormality of the uterus, Bicornuate uterus	OMIM:192000
Omenn Syndrome	Recurrent bacterial infections, Hypoproteinemia, B lymphocytopenia, Hepatomegaly, Erythroderma, P...	OMIM:603554
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Prolonged Q...	ORPHA:71212
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Dermatoosteolysis, Kirghizian Type	Joint contracture of the hand, Flexion contracture, Osteolysis	OMIM:221810
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase	OMIM:614369
Hydatidiform Mole, Recurrent, 4	Recurrent spontaneous abortion, Female infertility	OMIM:618432
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach...	OMIM:133780
Macrophage Activation Syndrome	Neutropenia, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Abnormal seru...	ORPHA:158061
Immunodeficiency 27A	Leukocytosis, Thrombocytosis, Anorexia, Pneumonia, Weight loss, Salmonella osteomyelitis, Anemia,...	OMIM:209950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive, T lymphocyto...	OMIM:601457
Oocyte Maturation Defect 10	Female infertility, Spontaneous abortion	OMIM:619176
Agammaglobulinemia 4, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent oti...	OMIM:613502
Immunodeficiency, Common Variable, 1	Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Decreased proportion of class-sw...	OMIM:607594
Agammaglobulinemia 1, Autosomal Recessive	Sinusitis, B lymphocytopenia, Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Pn...	OMIM:601495
Sea-Blue Histiocyte Disease	Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Reduced lys...	OMIM:278000
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin c...	OMIM:603552
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, Pe...	OMIM:201475
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level, Diarrhea, Recurrent infections	OMIM:614102
Hepatocellular Carcinoma	Hemobilia, Abdominal distention, Abnormality of the hepatic vasculature, Portal hypertension, Dia...	ORPHA:88673
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	OMIM:609655
Hepatoportal Sclerosis	Leukopenia, Hepatocellular carcinoma, Prolonged prothrombin time, Anemia, Hyperbilirubinemia, Nod...	ORPHA:64743
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega...	OMIM:613101
X-Linked Lymphoproliferative Disease	Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg...	ORPHA:2442
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas...	ORPHA:276
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Paraparesis, Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleuki...	ORPHA:79124
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne...	OMIM:300400
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Cog7-Cdg	Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Feed...	ORPHA:79333
Gorham-Stout Disease	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat...	ORPHA:73
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, BCGosis, Monocytosis, Failure to thrive, Pulmonary hemorrhage, Recurrent lower resp...	OMIM:619644
Dengue Fever	Cerebral hemorrhage, Hypoproteinemia, Nausea and vomiting, Hepatomegaly, Gingival bleeding, Leuko...	ORPHA:99828
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating antibody level, Splenomegaly, Dysgammaglobulinemia, Lymphocyto...	OMIM:308240
Leishmaniasis	Hepatomegaly, Anorexia, Leukopenia, Elevated hepatic transaminase, Rhinitis, Weight loss, Anemia,...	ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia	OMIM:608898
Preeclampsia	Hypertension, Elevated diastolic blood pressure, Helicobacter pylori infection, Small for gestati...	ORPHA:275555
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator...	ORPHA:331206
Galactosemia	Postural tremor, Hepatomegaly, Sepsis, Hypergalactosemia, Vomiting, Failure to thrive, Feeding di...	ORPHA:352
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Pulmonary insufficiency, Recu...	ORPHA:277
Candidiasis, Familial, 2	Hypereosinophilia	OMIM:212050
Immunodeficiency 46	Sepsis, Neutropenia, Failure to thrive, Recurrent sinopulmonary infections, Chronic oral candidia...	OMIM:616740
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Hepatomegaly, Anorexia, Neutropenia, Choreoathetosis, Failure to thrive, Fee...	ORPHA:79312
Hemophagocytic Syndrome Associated With An Infection	Abnormal inflammatory response, Neutropenia, Splenomegaly, Increased circulating ferritin concent...	ORPHA:158048
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypocholesterolemia, Myoclonus, Anemia, Splenomegaly, Intention tremor, Hyperspleni...	OMIM:610539
Wells Syndrome	Eosinophilia	ORPHA:901
Familial Hemophagocytic Lymphohistiocytosis	Neutropenia, Petechiae, Decreased circulating antibody level, Splenomegaly, Increased circulating...	ORPHA:540
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Elevated circulating creatine kinase concentration	OMIM:615048
Glycogen Storage Disease Ixb	Hepatomegaly, Diarrhea, Increased hepatic glycogen content	OMIM:261750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Nausea and vomiting, Hepatomegaly, Sepsis, Neutropenia, Choreoathetosis, Chorea, Anemia, Pancreat...	ORPHA:289916
Rabies	Nausea and vomiting, Anorexia, Cerebral palsy, Vocal cord paresis, Sudden cardiac death, Recurren...	ORPHA:770
Cog4-Cdg	Recurrent infection of the gastrointestinal tract, Failure to thrive in infancy, Limb hypertonia,...	ORPHA:263501
Vitreoretinochoroidopathy	Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova...	OMIM:193220
Perrault Syndrome 6	Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula...	OMIM:617565
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas...	ORPHA:158057
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i...	ORPHA:983
Lymphoproliferative Syndrome 1	Hepatomegaly, Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulating anti...	OMIM:613011
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Rhabdoid Tumor	Nausea and vomiting, Hypercalcemia, Hypertension, Cerebral palsy, Weight loss, Anemia, Neoplasm o...	ORPHA:69077
Agammaglobulinemia 6, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu...	OMIM:612692
Relapsing Fever	Leukocytosis, Elevated circulating C-reactive protein concentration, Vomiting, Leukopenia, Prolon...	ORPHA:91547
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Eczema, Psoriasiform dermatitis, Sepsis, Bronchiectasis, Decreased circulating IgA ...	OMIM:616100
Keratoderma Hereditarium Mutilans	Osteolysis	ORPHA:494
Immunodeficiency, Common Variable, 2	Recurrent bacterial infections, Hepatomegaly, Bronchiectasis, Decreased circulating IgA level, Re...	OMIM:240500
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Metacarpal osteolysis, Limitation of joint mobility, Camptodactyly of finger, Carpal osteolysis, ...	ORPHA:2774
Osteosarcoma	Osteolysis, Pathologic fracture	ORPHA:668
Ollier Disease	Joint stiffness, Anemia, Osteolysis	ORPHA:296
Vitamin B12-Unresponsive Methylmalonic Acidemia	Nausea and vomiting, Macrocytic anemia, Hepatomegaly, Leukopenia, Choreoathetosis, Anemia, Pancre...	ORPHA:27
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilia	OMIM:243700
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Chronic diarrhe...	OMIM:618805
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia	OMIM:183350
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Abnorm...	ORPHA:54251
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Shock, Hypoproteinemia, Anorexia, Neutropenia, Vomiting, Decreased circulating IgG level, Hypoalb...	OMIM:600351
Reticular Dysgenesis	Sepsis, Leukopenia, Failure to thrive, Chronic otitis media, Weight loss, Decreased circulating a...	ORPHA:33355
Bare Lymphocyte Syndrome, Type Ii	Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Neutropenia, Infectious encephal...	OMIM:209920
Ramon Syndrome	Osteolysis	ORPHA:3019
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia, Bruising susceptibility	OMIM:188000
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating creatine kinase concentration, Failure to thrive, Elevated hep...	OMIM:614727
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	OMIM:601859
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Tremor, Abnormality of the liver, P...	ORPHA:79234
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat...	ORPHA:169079
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Thrombocytosis, Hepatomegaly, Vomiting, Pneumonia, Iron deficiency anemia, Budd-...	OMIM:226300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega...	ORPHA:169154
Thymic Aplasia	Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Diar...	ORPHA:83471
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Diarrhea, Vomiting	OMIM:605911
Ménétrier Disease	Hypoproteinemia, Anorexia, Hypochromic microcytic anemia, Vomiting, Helicobacter pylori infection...	ORPHA:2494
Lactose Intolerance, Adult Type	Flatulence, Diarrhea, Abdominal pain, Decreased small intestinal mucosa lactase level	OMIM:223100
Reticular Dysgenesis	Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl...	OMIM:267500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hepatocellular necrosis, Failure to thrive, Feeding difficulties, Recurrent infecti...	OMIM:618278
Optic Atrophy 2	Tremor, Babinski sign, Dysdiadochokinesis	OMIM:311050
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Bloody diarrhea, Constrictive pericarditis, Lung abscess, Protracted diarrhea, Gast...	ORPHA:67
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Dysphagia, Vomiting, Elevated circulating creatine kinase concentration, Feeding di...	ORPHA:26791
Ebola Hemorrhagic Fever	Sepsis, Dysphagia, Vomiting, Nausea, Leukopenia, Hepatitis, Melena, Abnormal bleeding, Gastrointe...	ORPHA:319218
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Postnatal growth retardation, Short stature, Abdominal obesity, Truncal obesity	OMIM:618160
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Thrombocytopenia, Hepatomegaly, Subcutaneous hemorrhage	ORPHA:1980
Coproporphyria, Hereditary	Hepatomegaly, Hypertension, Vomiting, Respiratory paralysis, Tachycardia, Splenomegaly, Diarrhea,...	OMIM:121300
X-Linked Agammaglobulinemia	Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Failur...	ORPHA:47
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceri...	ORPHA:75234
Typhoid	Hepatomegaly, Infectious encephalitis, Epistaxis, Splenomegaly, Tremor, Ataxia, Gastrointestinal ...	ORPHA:99745
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time, Splenomegaly, Increased circulating ferritin concentration, Hemiplegi...	OMIM:267700
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Vomiting, Failure to thrive, Abdominal distention, Anemia, Patent ductus arteriosus...	OMIM:608104
Autosomal Agammaglobulinemia	Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Failure to thrive, Chronic ot...	ORPHA:33110
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia,...	OMIM:308230
Polyendocrine-Polyneuropathy Syndrome	Hypogonadism, Postnatal growth retardation, Short stature	OMIM:616113
Acute Liver Failure	Prolonged prothrombin time, Hepatitis, Hyperammonemia, Gastrointestinal hemorrhage, Incoordinatio...	ORPHA:90062
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Myoclonus, Tremor, Ataxia, Hypertriglyceridemia, Tetraparesis, Spasticity, Abnormal...	OMIM:615924
Diethylstilbestrol Syndrome	Hypospadias, Testicular dysgenesis, Small for gestational age, Abnormal reproductive system morph...	ORPHA:1916
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Recurrent opportunistic infections, Neutropenia in presence of anti-neutropil antibodi...	OMIM:613179
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Failure to thrive...	OMIM:615207
Hypermanganesemia With Dystonia 1	Hepatomegaly, Unconjugated hyperbilirubinemia, Rigidity, Polycythemia, Abnormality of extrapyrami...	OMIM:613280
Tenosynovial Giant Cell Tumor	Joint stiffness, Localized osteoporosis, Limitation of joint mobility, Osteolysis	ORPHA:66627
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Cirrhosis, Hepatic failure, Hypoalbu...	OMIM:602579
Aggressive Systemic Mastocytosis	Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Abnormal mast cell m...	ORPHA:98850
Aicardi-Goutieres Syndrome 3	Chilblains, Hepatosplenomegaly, Spasticity, Elevated hepatic transaminase, Thrombocytopenia	OMIM:610329
Malaria	Nausea and vomiting, Anemia, Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactiv...	ORPHA:673
Thrombocytopenic Purpura, Autoimmune	Abnormal bleeding, Thrombocytopenia	OMIM:188030
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Thrombocytopenia, Hypertension	OMIM:189800
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time, Splenomegaly, Increased circulating ferritin concentration, Hepatospl...	OMIM:603553
Aicardi-Goutieres Syndrome 7	Atopic dermatitis, Hepatomegaly, Feeding difficulties, Splenomegaly, Spastic tetraparesis, Increa...	OMIM:615846
Bacterial Toxic-Shock Syndrome	Sinusitis, Myocarditis, Sepsis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a...	ORPHA:36234
Isolated Agammaglobulinemia	Sinusitis, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Failure to thrive, Abnormal ...	ORPHA:229717
Sepsis In Premature Infants	Neutropenia, Petechiae, Functional abnormality of the gastrointestinal tract, Abdominal distentio...	ORPHA:90051
Perrault Syndrome 3	Hypoplasia of the uterus, Primary amenorrhea, Short stature, Hypergonadotropic hypogonadism	OMIM:614129
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Hypertension, Telangiectasia, Pneumonia, Elevated circulating creatinine concentration, Cardiomyo...	ORPHA:247691
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Mevalonic Aciduria	Recurrent infections, Hepatosplenomegaly, Elevated circulating C-reactive protein concentration, ...	OMIM:610377
Premature Ovarian Failure 7	Secondary amenorrhea, Clitoral hypertrophy, Primary amenorrhea, Premature ovarian insufficiency, ...	OMIM:612964
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Eosinophilic Gastroenteritis	Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Elevated circulating C-reactive pr...	ORPHA:2070
Galactosemia I	Hemolytic anemia, Hepatomegaly, Hypergalactosemia, Vomiting, Failure to thrive, Increased level o...	OMIM:230400
Mpi-Cdg	Portal hypertension, Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Decreased liver...	ORPHA:79319
Acquired Purpura Fulminans	Shock, Sepsis, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Skin rash, H...	ORPHA:49566
Gaucher Disease, Type Ii	Hepatomegaly, Dysphagia, Recurrent aspiration pneumonia, Rigidity, Failure to thrive, Feeding dif...	OMIM:230900
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis...	OMIM:619281
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Methylmalonic acidemia, Tubulointerstitial nephritis, Leukopenia, Vomiting, Failure...	OMIM:251000
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Failure to thrive, T lymp...	OMIM:618108
Secretory Component Deficiency	Intermittent diarrhea, Chronic intestinal candidiasis	OMIM:269650
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3	Tremor, Ataxia, Slurred speech	OMIM:613227
Immunodeficiency 92	Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy...	OMIM:619652
Multicentric Reticulohistiocytosis	Histiocytosis	ORPHA:139436
Babesiosis	Nausea and vomiting, Hepatomegaly, Anorexia, Leukopenia, Recurrent infections, Splenomegaly, Myoc...	ORPHA:108
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated circulat...	OMIM:235555
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Failure to thrive, Splenomegaly, Tremor, Ataxia, Poor appetite, Low alkaline phosph...	OMIM:201100
Congenital Disorder Of Glycosylation, Type Iij	Recurrent infection of the gastrointestinal tract, Hepatomegaly, Failure to thrive, Feeding diffi...	OMIM:613489
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper...	OMIM:607765
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fulminant hepatic failure, Feeding difficult...	OMIM:231530
Myopathy, Spheroid Body	Tremor, Dysphagia, Elevated circulating creatine kinase concentration	OMIM:182920
Caspase 8 Deficiency	Eczema, Pneumonia, Recurrent herpes, Decreased circulating IgA level, Failure to thrive, Decrease...	OMIM:607271
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Rheumatoid art...	ORPHA:100026
Propionic Acidemia	Hepatomegaly, Feeding difficulties in infancy, Eczema, Neutropenia, Limb hypertonia, Vomiting, Pr...	OMIM:606054
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Immunodeficiency, Common Variable, 12, With Autoimmunity	Bronchiectasis, Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurre...	OMIM:616576
Akt2-Related Familial Partial Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin...	ORPHA:79085
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Osteolysis	ORPHA:391
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic fibrosis, Frequent falls, Splenomegaly, Tremor, Ataxia, Hepatic failure, Sp...	OMIM:616719
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Eosinophilia	OMIM:618282
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Folate Malabsorption, Hereditary	Athetosis, Feeding difficulties in infancy, Neutropenia, Leukopenia, Failure to thrive, Recurrent...	OMIM:229050
Avian Influenza	Sepsis, Elevated circulating C-reactive protein concentration, Infectious encephalitis, Vomiting,...	ORPHA:454836
Congenital Enterovirus Infection	Myocarditis, Leukocytosis, Sepsis, Neutropenia, Infectious encephalitis, Leukopenia, Hepatitis, A...	ORPHA:292
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Atopic dermatitis, Head titubation, Hypochromic microcytic anemia, Vomiting, Vestibular areflexia...	ORPHA:3240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Splenomegaly, Decreased circulating total IgM, Eosinophilia, Diarrhea, Decreased circu...	OMIM:102700
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Vomiting, Nausea, Hyperglutaminemia, Feeding difficulties, Paraplegia, Failure to t...	ORPHA:927
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Failure ...	OMIM:304790
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Inflammation of the large intestine, Elevated hepatic transaminase, Elevated circul...	OMIM:614576
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Abscess, Chronic oral can...	OMIM:150550
Immunodeficiency 47	Decreased circulating antibody level, Recurrent infections, Splenomegaly, Accessory spleen, Decre...	OMIM:300972
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Atopic dermatitis, Retinal neovascularization	OMIM:619074
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Mucoid diarrhea, Decreased proportion of class-switched memo...	OMIM:615767
Felty Syndrome	Neutropenia, Synovitis, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Arthritis, A...	ORPHA:47612
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hy...	OMIM:601847
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia, Bruising susceptibility	OMIM:614200
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Abscess, Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Splenomegaly, Neutroph...	OMIM:612852
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Failure to thrive, Female infertility, Short stature, Premature ovarian insufficiency	OMIM:619518
Hutchinson-Gilford Progeria Syndrome	Osteolysis, Generalized osteoporosis	OMIM:176670
Obesity Due To Congenital Leptin Deficiency	Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o...	ORPHA:66628
Selective Igm Deficiency	Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent herpes, Neutropen...	ORPHA:331235
Thrombocytopenia, Cyclic	Abnormal bleeding, Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Feeding difficulties in infancy, Elevated circulating creatine kinase concentration...	OMIM:255120
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Tube feeding, Eczema, Erythroderma, Vomiting, Decreased circulating...	OMIM:619510
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Nodular regenerative hyperplasia of liver, Increased circulating ferritin concentration, Hepatosp...	ORPHA:210136
46,Xy Sex Reversal 11	Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma...	OMIM:273250
Cholestasis, Progressive Familial Intrahepatic, 6	Bleeding requiring red cell transfusion, Elevated hepatic transaminase, Failure to thrive, Elevat...	OMIM:619484
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormality of serum cytokine level, Increased circulating interleukin 6, Reduced ejection fracti...	ORPHA:542323
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Decreased serum creatinine, Myocardial infarction, Abnormal la...	ORPHA:54057
Acquired Idiopathic Sideroblastic Anemia	Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro...	ORPHA:75564
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec...	ORPHA:911
Shigellosis	Myocarditis, Sepsis, Tenesmus, Uveitis, Abdominal pain, Abnormal blood ion concentration, Conjunc...	ORPHA:810
Boutonneuse Fever	Leukopenia, Nausea, Petechiae, Increased circulating IgG level, Vasculitis, Increased circulating...	ORPHA:83313
Hypocalcemic Vitamin D-Resistant Rickets	Bone cyst, Abnormal bone structure, Osteomalacia, Coarse metaphyseal trabecularization, Recurrent...	ORPHA:93160
Cinca Syndrome	Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia	OMIM:607115
Caroli Syndrome	Abnormality of the intrahepatic bile duct, Cholangitis, Sepsis, Cholangiocarcinoma, Melena, Hyper...	ORPHA:480520
Diarrhea 7, Protein-Losing Enteropathy Type	Hyperlipidemia, Vomiting, Failure to thrive, Hypercholesterolemia, Hypoalbuminemia, Diarrhea	OMIM:615863
Autosomal Dominant Severe Congenital Neutropenia	Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop...	ORPHA:486
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag...	OMIM:614699
Immunodeficiency, Common Variable, 8, With Autoimmunity	Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Decreas...	OMIM:614700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypergalactosemia, Prolonged prothrombin time, Decreased circulating antibody level, Hyperammonem...	ORPHA:247598
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Feeding difficulties in infancy, Methylmalonic acidemia, Neutropenia, Vomiting, Fai...	OMIM:251100
Spinocerebellar Ataxia 43	Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia	OMIM:617018
Chylomicron Retention Disease	Vomiting, Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminem...	OMIM:246700
Lower Motor Neuron Syndrome With Late-Adult Onset	Dysphagia, Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Tongue fas...	ORPHA:276435
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cachexia, Vomiting, Elevated circulating creatine kinase concentration, Hyperammone...	ORPHA:42
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Osteoarthritis, Osteolysis	ORPHA:1657
Graft Versus Host Disease	Stomatitis, Fasciitis, Recurrent infections, Hepatosplenomegaly, Maculopapular exanthema, Elevate...	ORPHA:39812
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Hyperostosis, Anemia, Arthritis, Osteomyelitis, Craniofacial osteosclerosis, Osteolysis	ORPHA:324964
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral hepatitis, Sinusitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder...	OMIM:307200
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Dysphagia, Limb fasciculations, Elevated circulating creatine kinase concentration, Nasogastric t...	ORPHA:90117
Leigh Syndrome	Failure to thrive, Ataxia, Hepatocellular necrosis, Spasticity	OMIM:256000
Snakebite Envenomation	Paralysis, Hyponatremia, Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Pseudobulbar par...	ORPHA:449285
Proteasome-Associated Autoinflammatory Syndrome 3	Sinusitis, Hepatomegaly, Myositis, Failure to thrive, Panniculitis, Anemia, Arthritis, Recurrent ...	OMIM:617591
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia	OMIM:618092
Gaucher Disease, Type Iii	Hepatomegaly, Myoclonus, Splenomegaly, Ataxia, Decreased beta-glucocerebrosidase level, Pancytope...	OMIM:231000
Citrullinemia Type Ii	Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli...	ORPHA:247585
Mitochondrial Neurogastrointestinal Encephalomyopathy	Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Abdominal distention, Weight...	ORPHA:298
Portal Hypertension, Noncirrhotic, 2	Ecchymosis, Hepatomegaly, Hepatocellular carcinoma, Petechiae, Epistaxis, Recurrent infections, N...	OMIM:619463
Obesity Due To Leptin Receptor Gene Deficiency	Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o...	ORPHA:179494
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Leukocytosis, Hepatomegaly, Intracranial hemorrhage, Acute leukemia, Chronic...	ORPHA:3226
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:603909
Frank-Ter Haar Syndrome	Joint stiffness, Camptodactyly of finger, Osteolysis	ORPHA:137834
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Microvesicular hepatic steatosis, Hepatomegaly, Vomiting, Elevated hepatic transaminase, Failure ...	OMIM:256810
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ...	ORPHA:2585
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Calvarial hyperostosis, Increased susceptibility to fractures, Osteolysis, Pathologic fracture	ORPHA:52430
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteolysis involving bones of the lower limbs, Increased susceptibility to fractures, Osteolysis ...	ORPHA:371428
Overlap Myositis	Hypertension, Dysphagia, Leukopenia, Elevated circulating creatine kinase concentration, Abnormal...	ORPHA:206572
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Babinski sign, Ataxia, Spasticity	OMIM:611105
46,Xy Sex Reversal 3	Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E...	OMIM:612965
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration...	OMIM:617099
Lujo Hemorrhagic Fever	Myocarditis, Odynophagia, Excessive bleeding after a venipuncture, Maculopapular exanthema, Eleva...	ORPHA:319213
Infantile Myofibromatosis	Bone cyst, Limitation of joint mobility, Osteolysis	ORPHA:2591
Parkinson Disease 14, Autosomal Recessive	Clumsiness, Rigidity, Elevated circulating creatine kinase concentration, Bradykinesia, Tremor, A...	OMIM:612953
Wilson Disease	Clumsiness, Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Anemia, Arthritis, Acute hep...	ORPHA:905
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Increased susceptibility to fractures, Osteolysis	OMIM:602080
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,...	OMIM:613812
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Dysphagia, Myoclonus, Intention tremor, Action tremor, Thrombocytopenia, Gait at...	OMIM:254900
Maffucci Syndrome	Recurrent fractures, Osteolysis	ORPHA:163634
Androgen Insensitivity Syndrome	Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o...	ORPHA:754
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Sepsis, Decreased prealbumin level, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropeni...	ORPHA:37042
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly	OMIM:607616
46,Xx Ovotesticular Disorder Of Sex Development	Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali...	ORPHA:2138
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Pancreatitis, Hyp...	OMIM:603471
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Thrombo...	ORPHA:231393
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Chédiak-Higashi Syndrome	Neutropenia, Abnormal platelet function, Recurrent infections, Splenomegaly, Periodontitis, Incre...	ORPHA:167
Gaucher Disease Type 1	Leukopenia, Anemia, Osteopenia, Pathologic fracture, Splenomegaly, Increased circulating antibody...	ORPHA:77259
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Portal fibrosis, Recurrent infections, Splenomegaly, Diarrhea, Abnormal erythrocyte enzyme level,...	ORPHA:264580
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Hepatocellular carcinoma, Acholic stools, Weight loss, Cholelithia...	ORPHA:65682
Immunodeficiency 49	Eosinophilia, Lymphopenia, Umbilical hernia	OMIM:617237
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Frequent falls, Feeding difficulties, Nasogastric tube feeding in infancy, Chorea, Tremor, Hemiba...	ORPHA:494526
Refractory Celiac Disease	Inflammatory abnormality of the skin, Hypoproteinemia, Macrocytic anemia, Normocytic anemia, Iron...	ORPHA:398063
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Feeding difficulties, Megaloblastic anemia, Ataxia, Eyelid myoclonus, Pancytopenia,...	OMIM:613839
Hereditary Folate Malabsorption	Nausea and vomiting, Anorexia, Failure to thrive, Cheilitis, Decreased circulating antibody level...	ORPHA:90045
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Leydig Cell Hypoplasia	Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Hyoplasia of the Leydig cells, Abnormal...	ORPHA:755
Necrotizing Enterocolitis	Shock, Hyponatremia, Bloody diarrhea, Leukocytosis, Neutropenia, Vomiting, Peritonitis, Small for...	ORPHA:391673
Brunner Syndrome	Diarrhea, Kinetic tremor	OMIM:300615
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties, Splenomegaly, Hepatosplenomega...	OMIM:610333
Angioedema, Hereditary, 8	Abdominal pain, Diarrhea, Episodic vomiting	OMIM:619367
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py...	OMIM:614561
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Failure to thrive, Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic...	OMIM:211600
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Failure to thrive, Prolonged prothrombin tim...	ORPHA:99901
Classic Galactosemia	Postural tremor, Hepatomegaly, Clumsiness, Sepsis, Vomiting, Feeding difficulties, Speech apraxia...	ORPHA:79239
Diarrhea 6	Diarrhea, Abdominal pain	OMIM:614616
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Vomiting, Nausea, Hepatic steatosis, Elevated circulating glutaric acid concentrati...	OMIM:231680
Hyperphenylalaninemia, Bh4-Deficient, C	Dysphagia, Choreoathetosis, Myoclonus, Hyperphenylalaninemia, Tremor, Hypertonia	OMIM:261630
Immunodeficiency 76	B lymphocytopenia, T lymphocytopenia, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lympho...	OMIM:619164
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eosinophilia	OMIM:147060
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Anemia, Elevated hepatic transaminase, Thrombocytopen...	ORPHA:858
Ovarian Dysgenesis 6	Hypoplasia of the uterus	OMIM:618078
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Cardiomyopathy, Decreased liver function, Spasticity, Thrombocytopenia	ORPHA:67048
Hyperphenylalaninemia, Bh4-Deficient, A	Dysphagia, Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Hyperphenylalanine...	OMIM:261640
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eosinophilia	OMIM:618523
Congenital Disorder Of Glycosylation, Type Ix	Decreased liver function, Feeding difficulties, Thrombocytopenia, Failure to thrive	OMIM:615597
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Neutropenia, Splenomegaly, Maculopapular exanthema, Pancytopenia, Hemolyt...	ORPHA:398124
Epilepsy, Progressive Myoclonic, 6	Tremor, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration	OMIM:614018
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating polysaccharide concentration, Abdominal distention, Weight loss, Abnormal ci...	ORPHA:103910
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro...	OMIM:133180
Legionnaires Disease	Myocarditis, Nausea and vomiting, Hyponatremia, Anorexia, Pericarditis, Infectious encephalitis, ...	ORPHA:549
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
Mirage Syndrome	Hyperkalemia, Hyponatremia, Sepsis, Intracranial hemorrhage, Recurrent bacterial infections, Leuk...	OMIM:617053
Brucellosis	Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Transient ischem...	ORPHA:1304
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Recurrent infections, Decreased proportion of CD8-p...	OMIM:614493
Mayer-Rokitansky-Kuster-Hauser Syndrome	Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus	OMIM:277000
Wiskott-Aldrich Syndrome	Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Inflammation of the large int...	OMIM:301000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre...	OMIM:614837
B4Galt1-Cdg	Inflammatory abnormality of the skin, Hepatomegaly, Small for gestational age, Elevated hepatic t...	ORPHA:79332
Gray Platelet Syndrome	Abnormality of thrombocytes, Epistaxis, Splenomegaly, Abnormal bleeding, Thrombocytopenia, Bruisi...	ORPHA:721
Thrombocytopenia 4	Thrombocytopenia	OMIM:612004
Primary Myelofibrosis	Ecchymosis, Leukocytosis, Thrombocytosis, Anorexia, Hepatomegaly, Cachexia, Petechiae, Anemia, Sp...	ORPHA:824
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia,...	OMIM:619313
Proteasome-Associated Autoinflammatory Syndrome 2	Failure to thrive, Recurrent infections, Increased circulating antibody level, Skin rash, Thrombo...	OMIM:618048
Premature Ovarian Failure 18	Secondary amenorrhea, Hypoplasia of the ovary, Premature ovarian insufficiency, Irregular menstru...	OMIM:619203
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Gait ataxia	OMIM:618387
Beta-Thalassemia	Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Anemia, Ab...	ORPHA:848
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Thrombocytopenia	OMIM:124900
Roifman Syndrome	Hypogonadotropic hypogonadism, Hepatosplenomegaly, Eosinophilia	ORPHA:353298
Prolidase Deficiency	Hepatomegaly, Eczema, Diffuse telangiectasia, Petechiae, Failure to thrive, Anemia, Recurrent inf...	OMIM:170100
Bernard-Soulier Syndrome	Menorrhagia, Gingival bleeding, Epistaxis, Impaired ristocetin-induced platelet aggregation, Gast...	OMIM:231200
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Pustule, Vomiting, Failure to thrive, Recurrent pneumonia, Recurrent bronchiolitis,...	OMIM:616069
Dyskinesia, Limb And Orofacial, Infantile-Onset	Frequent falls, Feeding difficulties, Chorea, Tremor, Hyperkinetic movements, Hemiballismus	OMIM:616921
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Colitis, Failure to thrive, Hepatitis, Decreased serum i...	OMIM:614602
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczema, Severe varicella zoster infection, Hepatosplenomegaly, Recurrent respiratory infections, ...	OMIM:606367
Familial Mediterranean Fever	Leukocytosis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Pericarditis, ...	OMIM:249100
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatomegaly, Portal fibrosis, Vomiting, Hepatic fibrosis, Elevated circulating creatine kinase c...	ORPHA:370
Chylomicron Retention Disease	Vomiting, Hypocholesterolemia, Acanthocytosis, Abdominal distention, Failure to thrive, Increased...	ORPHA:71
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Yellow Fever	Prolonged prothrombin time, Excessive bleeding after a venipuncture, Acute pancreatitis, Pancreat...	ORPHA:99829
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Dyspareunia, Partial vaginal septum, A...	ORPHA:3411
Transaldolase Deficiency	Abnormal circulating glutamine concentration, Telangiectasia, Anemia, Cirrhosis, Hepatosplenomega...	ORPHA:101028
Neuronopathy, Distal Hereditary Motor, Type Viia	Tremor, Vocal cord paralysis, Vocal cord paresis	OMIM:158580
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Nausea, Elevated circulating creatine kinase concentration, Recurrent inf...	OMIM:615084
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo...	ORPHA:35078
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hy...	OMIM:619665
Complete Androgen Insensitivity Syndrome	Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in...	ORPHA:99429
Marburg Hemorrhagic Fever	Petechiae, Neutrophilia in presence of infection, Prolonged prothrombin time, Odynophagia, Excess...	ORPHA:99826
Immunodeficiency 55	Eczema, Neutropenia, Recurrent infections, Recurrent skin infections, Diarrhea	OMIM:617827
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Sepsis, Third degree atrioventricular block, Hemolytic anemia, Elevated c...	OMIM:619573
Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Vomiting, Increased hepatic glycogen content, Abnormal circulating fatty-acid conce...	ORPHA:263455
Spinocerebellar Ataxia 37	Tremor, Ataxia, Dysphagia, Frequent falls	OMIM:615945
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hepatic fibrosis, Vomiting, Nausea, Elevated circulating creatine kinase concentrat...	ORPHA:79240
46,Xy Sex Reversal 7	Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian...	OMIM:233420
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog...	ORPHA:168563
Immunodeficiency 36	Recurrent bacterial infections, Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating...	OMIM:616005
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Dysphagia, Inflammation of the large intestine, Neutropenia, Eczema, Colitis, Failure to thrive, ...	OMIM:608809
Crimean-Congo Hemorrhagic Fever	Myocarditis, Subdural hemorrhage, Melena, Parotitis, Splenomegaly, Fasciculations, Acute pancreat...	ORPHA:99827
Drug-Induced Lupus Erythematosus	Pericarditis, Petechiae, Elevated circulating creatine kinase concentration, Prolonged QTc interv...	ORPHA:231111
Aromatase Deficiency	Macroorchidism, postpubertal, Growth delay, Ambiguous genitalia, female, Eunuchoid habitus, Femal...	ORPHA:91
Whipple Disease	Myocarditis, Hyponatremia, Hepatomegaly, Anorexia, Cachexia, Pericarditis, Infectious encephaliti...	ORPHA:3452
Neuroleptic Malignant Syndrome	Sepsis, Hypernatremia, Extrapyramidal muscular rigidity, Pulmonary embolism, Elevated circulating...	ORPHA:94093
Immunodeficiency 60 And Autoimmunity	Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci...	OMIM:618394
+173470 integrin, beta-3	Post-transfusion thrombocytopenia, Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epist...	OMIM:173470
Cidec-Related Familial Partial Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin...	ORPHA:435651
Chediak-Higashi Syndrome	Hepatomegaly, Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia...	OMIM:214500
Polycythemia Vera	Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn...	OMIM:263300
Trehalase Deficiency	Vomiting, Abdominal distention, Abnormal enzyme/coenzyme activity, Diarrhea, Abdominal pain	ORPHA:103909
Systemic Mastocytosis With Associated Hematologic Neoplasm	Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo...	ORPHA:98849
Heme Oxygenase 1 Deficiency	Thrombocytosis, Hepatomegaly, Increased circulating interleukin 6, Elevated circulating C-reactiv...	OMIM:614034
Griscelli Syndrome	Hepatomegaly, Leukopenia, Abnormal circulating lipid concentration, Decreased circulating antibod...	ORPHA:381
Mullerian Aplasia And Hyperandrogenism	Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:158330
Amyotrophic Lateral Sclerosis 4, Juvenile	Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Abnormal lower motor ...	OMIM:602433
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff...	OMIM:228300
Porphyria Cutanea Tarda	Increased serum iron, Elevated hepatic iron concentration, Portal inflammation, Chronic hepatitis...	ORPHA:101330
Thrombocytopenia 7	Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg...	OMIM:619130
Wiskott-Aldrich Syndrome, Autosomal Dominant	Sinusitis, Eczema, Inflammation of the large intestine, Decreased circulating total IgM, Hemolyti...	OMIM:600903
3-Hydroxy-3-Methylglutaric Aciduria	Dilated cardiomyopathy, Prolonged prothrombin time, Spastic hemiparesis, Hyperammonemia, Reye syn...	ORPHA:20
Specific Granule Deficiency 2	Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Failure...	OMIM:617475
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased serum leptin	OMIM:614962
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Myopathy With Extrapyramidal Signs	Clumsiness, Leukocytosis, Hepatomegaly, Clonus, Choreoathetosis, Elevated circulating creatine ki...	OMIM:615673
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro...	OMIM:614373
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis	OMIM:230600
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Failure to thrive, Feeding difficulties, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia, Diarrhea	OMIM:226200
Autoinflammation, Immune Dysregulation, And Eosinophilia	Hepatosplenomegaly, Eosinophilia	OMIM:618999
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Feeding difficulties in infancy, Methylmalonic acidemia, Neutropenia, Vomiting, Fai...	OMIM:251110
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Dystonia, Dopa-Responsive	Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f...	OMIM:128230
Omenn Syndrome	Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia	ORPHA:39041
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Hepatomegaly, Anemia, Patent ductus arteriosus, Thrombocytopenia	ORPHA:2123
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Primary amenorrhea, Cryptorch...	OMIM:614841
Transcobalamin Deficiency	Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat...	ORPHA:859
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Nasogastric tube feeding, Vomiting, Failure to thr...	ORPHA:289504
Bone Marrow Failure Syndrome 4	Eczema, Leukopenia, Decreased circulating antibody level, Anemia, Thrombocytopenia, Recurrent res...	OMIM:618116
Pediatric-Onset Graves Disease	Nausea and vomiting, Hepatomegaly, Hypertension, Episcleritis, Atrial fibrillation, Neutropenia i...	ORPHA:525731
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Sinusitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni...	OMIM:300755
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Petechiae, Gastrointestinal hemorrhage, Hepatosplenomegaly, Diarrhe...	ORPHA:85450
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Dysphagia, Nausea, Elevated circulating creatine kinase concentration, Re...	ORPHA:352447
Refractory Anemia With Excess Blasts	Leukocytosis, Chronic infection, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volu...	ORPHA:86839
Acute Promyelocytic Leukemia	Ecchymosis, Leukocytosis, Chronic infection, Anorexia, Neutropenia, Gingival bleeding, Leukopenia...	ORPHA:520
Whim Syndrome 1	Neutropenia, Abnormal morphology of female internal genitalia, Abnormality of female external gen...	OMIM:193670
Tick-Borne Encephalitis	Incoordination, Unusual CNS infection, Tongue fasciculations, Elevated circulating C-reactive pro...	ORPHA:297
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Eczema, Anorexia, Perioral eczema, Weight loss, Hyperammonemia, Ataxia, Thro...	ORPHA:79242
Roifman Syndrome	Eosinophilia, Splenomegaly	OMIM:616651
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia, Hypertension	OMIM:166990
Ataxia-Pancytopenia Syndrome	Babinski sign, Hypoplastic anemia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Anemia,...	OMIM:159550
5-Oxoprolinase Deficiency	Vomiting, Reduced 5-oxoprolinase level, Enterocolitis, Diarrhea, Abdominal pain	OMIM:260005
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Decreased circulating antibody level, Hyperglycinemia, Hyperammonem...	ORPHA:470
Saccharopinuria	Hypercystinemia, Abnormality of circulating enzyme level, Tremor, Hyperammonemia, Spastic diplegi...	ORPHA:3124
Hydatidiform Mole	Spontaneous abortion, Menometrorrhagia, Enlarged uterus	ORPHA:99927
Secondary Short Bowel Syndrome	Sepsis, Vomiting, Failure to thrive, Abdominal distention, Weight loss, Steatorrhea, Cholestasis,...	ORPHA:95427
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Menorrhagia, Epistaxis, Leukocyte inclusion bodies, Myocardial infar...	OMIM:155100
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Elevated circulating creatine kinase concentration, Cholelithiasis, Cholest...	ORPHA:79095
Ataxia-Telangiectasia	Failure to thrive, Decreased circulating antibody level, Telangiectasia of the skin, Tremor, Atax...	ORPHA:100
Infection-Related Hemolytic Uremic Syndrome	Brain abscess, Myocarditis, Septic arthritis, Hemolytic anemia, Diarrhea, Abdominal pain, Abnorma...	ORPHA:544482
Tularemia	Brain abscess, Leukocytosis, Pneumonia, Anemia, Tachycardia, Meningitis, Increased circulating an...	ORPHA:3392
Cyclic Neutropenia	Sinusitis, Sepsis, Peritonitis, Opportunistic infection, Recurrent tonsillitis, Periodontitis, Pe...	ORPHA:2686
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Functional abnormality of the gastrointestinal tract, Decreased circulating IgA ...	ORPHA:90362
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Splenomegaly, Uveitis, Vasculitis, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Shwachman-Diamond Syndrome	Sinusitis, Sepsis, Eczema, Neutropenia, Pancreatic hypoplasia, Leukemia, Steatorrhea, Pancytopeni...	ORPHA:811
Partial Androgen Insensitivity Syndrome	Hypospadias, Male sexual dysfunction, Aplasia of the uterus, Bifid scrotum, Fused labia majora, A...	ORPHA:90797
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Feeding difficulties in infancy, Hepatomegaly, Hepatic fibrosis, Vomiting, Decrea...	OMIM:212065
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Hypernatremia, Hepatitis, Recurrent infections, Splenomegaly, Gastritis, Crohn's ...	OMIM:619381
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Increased circulating IgA level, Arthritis, Intestinal obstruction, Ga...	ORPHA:343
Lysinuric Protein Intolerance	Hepatomegaly, Thrombocytopenia, Vomiting, Nausea, Leukopenia, Failure to thrive, Anemia, Pancreat...	OMIM:222700
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis, Nausea and vomiting, Hyponatremia, Leukocytosis, Hashimoto thyroiditis, Myoclonus, Cer...	ORPHA:83601
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Sideroblastic anemia, Patent ductus arteriosus, Decreased liver function, Thrombocy...	OMIM:617021
Immunodeficiency 31C	Eczema, Chronic mucocutaneous candidiasis, Lymphopenia, Recurrent respiratory infections, Diarrhe...	OMIM:614162
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Abnormal bleeding, Thrombocytopenia...	ORPHA:231401
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis, Abnormal bleeding	OMIM:314000
Dracunculiasis	Nausea and vomiting, Recurrent cutaneous abscess formation, Arthritis, Skin rash, Diarrhea	ORPHA:231
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Osteolysis	ORPHA:659
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Diarrhea, Decreased mean...	ORPHA:231226
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Cirrhosis, Diarrhea, Hepatic fibrosis, Cholestasis	OMIM:609313
Autoinflammatory Syndrome, Familial, Behcet-Like	Colitis, Chorea, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Hemolytic anemia	OMIM:616744
Perrault Syndrome 4	Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorr...	OMIM:615300
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Hepatomegaly, Erythroderma, Vomiting, Elevated total serum tryptase, A...	ORPHA:79456
Spinocerebellar Ataxia Type 31	Tremor, Gait ataxia, Spasticity	ORPHA:217012
T-Cell Immunodeficiency With Thymic Aplasia	Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Failure to thrive, R...	OMIM:242700
Hyper-Igd Syndrome	Leukocytosis, Increased circulating IgD level, Vomiting, Increased circulating IgA level, Lymphad...	OMIM:260920
Hypocomplementemic Urticarial Vasculitis	Conjunctivitis, Nausea and vomiting, Hepatomegaly, Recurrent bacterial infections, Episcleritis, ...	ORPHA:36412
Spontaneous Periodic Hypothermia	Nausea and vomiting, Tremor, Ataxia, Skin rash, Diarrhea, Arrhythmia	ORPHA:29822
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Abnormal erythrocyte enzyme level, Episodic vomiting, Nausea, Abdominal distention,...	ORPHA:100924
Segawa Syndrome, Autosomal Recessive	Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo...	OMIM:605407
Thrombotic Thrombocytopenic Purpura, Hereditary	Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal jaundice, Elevated circulat...	OMIM:274150
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Babinski sign, Scissor gait, Bradykinesia, Hypermanganesemia, Tremor, Ankle clonus, Spasticity, P...	ORPHA:521406
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia, Cardiac arrest, Failure to thrive	OMIM:618951
Silver-Russell Syndrome Due To 11P15 Microduplication	Severe intrauterine growth retardation, Intrauterine growth retardation, Short stature, Small for...	ORPHA:231144
Stormorken Syndrome	Asplenia, Elevated circulating creatine kinase concentration, Epistaxis, Anemia, Howell-Jolly bod...	OMIM:185070
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Vasculitis, Skin rash, Diarrhea, Increased serum zinc	OMIM:601979
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertension, Poor motor coordination, Myoclonus, Tremor, Hepatic steatosis, Cirrho...	ORPHA:363400
Aceruloplasminemia	Torticollis, Increased circulating ferritin concentration, Elevated hepatic iron concentration, R...	ORPHA:48818
Parkinson Disease 22, Autosomal Dominant	Orthostatic hypotension, Bradykinesia, Tremor, Resting tremor, Constipation	OMIM:616710
Ddost-Cdg	Oromotor apraxia, Recurrent ear infections, Failure to thrive, Tremor, Hepatic steatosis, Elevate...	ORPHA:300536
Intrahepatic Cholestasis Of Pregnancy	Small for gestational age, Hyperbilirubinemia, Abnormality of the pancreas, Tremor, Increased ser...	ORPHA:69665
Celiac Disease, Susceptibility To, 1	Thrombocytosis, Macrocytic anemia, Eczema, Vomiting, Stomatitis, Decreased circulating IgA level,...	OMIM:212750
Autosomal Dominant Spastic Ataxia Type 1	Babinski sign, Dysphagia, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia...	ORPHA:251282
Beta-Ketothiolase Deficiency	Leukocytosis, Thrombocytosis, Anorexia, Hepatomegaly, Hypertension, Vomiting, Weight loss, Extrap...	ORPHA:134
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia	OMIM:607317
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ...	OMIM:619613
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Dysphagia, Fasciculations, Elevated circulating creatine kinase concentration	OMIM:313200
Q Fever	Myocarditis, Hepatitis, Splenomegaly, Hepatosplenomegaly, Vasculitis, Maculopapular exanthema, Ab...	ORPHA:781
Osteopetrosis, Autosomal Recessive 5

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