Not currently registered for phenotyping at IMPC

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

Gene Summary

leukemia inhibitory factor

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Similarity of
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
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
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
Hepatomegaly, Anorexia, Leukopenia, Elevated hepatic transaminase, Rhinitis, Weight loss, Anemia,... ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:608898
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
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
Nausea and vomiting, Anorexia, Cerebral palsy, Vocal cord paresis, Sudden cardiac death, Recurren... ORPHA:770
Recurrent infection of the gastrointestinal tract, Failure to thrive in infancy, Limb hypertonia,... ORPHA:263501
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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