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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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
phenotypes
Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Immunodeficiency 88
Eosinophilia OMIM:619630
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... OMIM:618963
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-posi... OMIM:269840
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Chro... OMIM:608971
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... ORPHA:100024
Hemochromatosis, Neonatal
Abnormal bleeding, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necr... OMIM:231100
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Premature Ovarian Failure 13
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Portal vein t... ORPHA:33402
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis OMIM:228600
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... ORPHA:572
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Osteolysis, Anemia ORPHA:158014
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Sandhoff Disease, Adult Form
Reduced beta-hexosaminidase activity, Elevated circulating creatine kinase concentration, Tremor,... ORPHA:309169
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Histiocytosis, Familial Lipochrome
Histiocytosis OMIM:235900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Recurrent infections,... OMIM:615285
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Papular Xanthoma
Histiocytosis ORPHA:158008
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... ORPHA:40923
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Carcinoid Syndrome
Elevated hepatic transaminase, Nausea and vomiting, Tricuspid regurgitation, Right ventricular fa... ORPHA:100093
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Joint stiffness ORPHA:2028
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr... OMIM:251880
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Chronic infection, Increased circulating... ORPHA:139507
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration... OMIM:616050
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med... ORPHA:169160
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... OMIM:613501
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Prolonged QT interval, E... ORPHA:71212
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... OMIM:308240
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... OMIM:605911
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... OMIM:226990
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... OMIM:300400
Hepatoportal Sclerosis
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Abnormal bleeding, Portal hypertension, Intr... ORPHA:64743
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepat... OMIM:209950
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudd... OMIM:201475
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Thrombocytopenia, Splenomegaly, Neut... ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Hepatomegaly, Thrombocytopenia, Chorea, Hemiplegia/hemiparesis, Neutropenia,... ORPHA:289916
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Jaun... OMIM:603552
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Hypoalbuminemia, Vomiting, Failure to thrive, ... OMIM:620357
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Recurrent aspiration ... ORPHA:79124
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Chilblains, Tremor, Splenomegaly, Rigidity, Feeding difficulties,... OMIM:615010
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia... OMIM:607594
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper... OMIM:613101
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Microvesicular hepatic steatosis, Hepatocellular necrosis, Chronic hemolytic anemia... OMIM:618278
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:79333
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... ORPHA:73
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Cog4-Cdg
Elevated hepatic transaminase, Neonatal sepsis, Fatal liver failure in infancy, Ataxia, Failure t... ORPHA:263501
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Diarrhea, Arthritis... OMIM:601457
Immunodeficiency 46
Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chro... OMIM:616740
Preeclampsia
Elevated hepatic transaminase, Helicobacter pylori infection, Increased body mass index, Small fo... ORPHA:275555
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Recurrent respirator... OMIM:607616
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Skin rash, Epistaxis, Cerebral he... ORPHA:99828
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Feeding difficulties in infancy, Diarrhea, Recurr... OMIM:229050
Spinal Muscular Atrophy, Jokela Type
Tremor, Elevated circulating creatine kinase concentration, Fasciculations OMIM:615048
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Pancytopenia, Abnormal macrophage... ORPHA:507
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat... OMIM:618495
Rabies
Nausea and vomiting, Cerebral palsy, Sudden cardiac death, Anorexia, Recurrent pharyngitis, Diarr... ORPHA:770
Hemophagocytic Syndrome Associated With An Infection
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Ataxia, Abnormal cytokine signaling... ORPHA:158048
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly, Myoclonus, Hypocholesterolemia, Anem... OMIM:610539
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Chilblains, Hepatosplenomegaly, Dystonia, Spasticity, Thrombocytop... OMIM:610329
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Sple... OMIM:603554
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Hype... ORPHA:27
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial in... OMIM:240500
Relapsing Fever
Abnormal bleeding, Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated ... ORPHA:91547
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Recurrent opport... ORPHA:277
Ollier Disease
Osteolysis, Anemia, Joint stiffness ORPHA:296
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Metacarpal osteolysis, Carpal ... ORPHA:2774
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Rhabdoid Tumor
Nausea and vomiting, Cerebral palsy, Hypercalcemia, Poor appetite, Abdominal pain, Thrombocytopen... ORPHA:69077
Ovarian Dysgenesis 3
Aplasia of the ovary, Primary amenorrhea, Female infertility, Delayed puberty OMIM:614324
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614727
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Osteosarcoma
Pathologic fracture, Osteolysis ORPHA:668
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hepa... OMIM:308230
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... OMIM:615924
Ramon Syndrome
Osteolysis ORPHA:3019
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Lymphopenia, Eczema, Autoimmune hemoly... OMIM:616100
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Diarrhea, Sepsis, Decrea... ORPHA:33355
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... ORPHA:26791
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated... OMIM:618805
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Abdominal pain, Splenomegaly, Jaundice, Diarrhea, Hypertension, Respir... OMIM:121300
Crigler-Najjar Syndrome Type 1
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... ORPHA:79234
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Propionic Acidemia
Hepatomegaly, Pancytopenia, Eczema, Poor appetite, Feeding difficulties in infancy, Thrombocytope... OMIM:606054
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... ORPHA:54251
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Wells Syndrome
Eosinophilia ORPHA:901
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Feeding difficulties, Limb dystonia, Intermittent diarrhea, Hypertrophic... OMIM:620270
Premature Ovarian Failure 7
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of the uter... OMIM:612964
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Cirrho... ORPHA:75234
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Hemophagocytic Lymphohistiocytosis, Familial, 1
Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Meningitis, Inf... OMIM:267700
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage ORPHA:1980
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... ORPHA:98850
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, S... OMIM:613280
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abdo... ORPHA:2494
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec... ORPHA:47
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor... ORPHA:319218
Galactosemia I
Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Di... OMIM:230400
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Ataxia, Tremor, ... ORPHA:99745
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pai... ORPHA:67
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Severe varicella zos... OMIM:616433
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... OMIM:612126
Malaria
Nausea and vomiting, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyp... ORPHA:673
Acute Liver Failure
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Vomiting, Nausea, Abnormal bl... ORPHA:90062
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... OMIM:256810
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pure red cell aplasia, Recurrent viral infections, Tremor, Otitis media, Hypouricemia,... OMIM:613179
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diar... OMIM:618108
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Hypertonia, Hypoalbuminemia, Meningitis, Infectious encephalitis, Hyponatremia, Hepat... OMIM:603553
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:90051
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Thrombocytopenia OMIM:189800
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness ORPHA:66627
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... ORPHA:100026
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, ... ORPHA:247691
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level, Flatulence, Diarrhea, Abdominal pain OMIM:223100
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Failure to t... OMIM:615207
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Mo... OMIM:615592
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Mevalonic Aciduria
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... OMIM:610377
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... ORPHA:36234
Acquired Purpura Fulminans
Shock, Skin rash, Elevated circulating C-reactive protein concentration, Sepsis, Intracranial hem... ORPHA:49566
Leigh Syndrome
Ataxia, Hepatocellular necrosis, Dystonia, Spasticity, Failure to thrive OMIM:256000
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... OMIM:607765
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Eosinophilic Gastroenteritis
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Abdominal... ORPHA:2070
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Abdominal pain, Diarrhea, Decreased cir... OMIM:226300
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kinase concentration, Ele... ORPHA:454836
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Osteolysis ORPHA:391
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce... OMIM:612852
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Feeding difficulties in infancy, Dilated cardiomyopathy, Hepatic necro... OMIM:231530
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... ORPHA:169079
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... OMIM:150550
Parkinsonism-Dystonia 1, Infantile-Onset
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... OMIM:613135
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Diarrhea, In... OMIM:601847
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Hypercholesterolemia, Failu... OMIM:615863
Babesiosis
Nausea and vomiting, Hepatomegaly, Hemolytic anemia, Myocardial infarction, Anorexia, Congestive ... ORPHA:108
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Feed... OMIM:610333
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations... ORPHA:276435
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunodeficiency 92
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremi... OMIM:619652
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis... OMIM:127550
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Immunodeficiency 19
Recurrent respiratory infections, Chronic diarrhea, Severe viral infection, T lymphocytopenia, Ab... OMIM:615617
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Failure to thrive, Bleeding requiring red cell transfusion, Conjug... OMIM:619484
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Severe i... OMIM:304790
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Severe... OMIM:615387
Felty Syndrome
Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthritis, Bone marrow... ORPHA:47612
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Recurrent skin infections, Tremor, Decreased circulating IgA level, Decreased ... OMIM:617744
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C... OMIM:618048
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Failure to thrive,... OMIM:613489
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... OMIM:102700
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Pancytopenia, Elevated circulatin... OMIM:614576
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... OMIM:602347
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Atopic dermatitis, Retinal neovascularization OMIM:619074
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Failure to thrive, Mucoid diarrhea, Increased circulating IgE l... OMIM:615767
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Elevated gamma-glutamylt... ORPHA:247598
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:212140
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... ORPHA:210136
Immunodeficiency 85 And Autoimmunity
Tube feeding, Lymphopenia, Recurrent respiratory infections, Failure to thrive in infancy, Eczema... OMIM:619510
Systemic Lupus Erythematosus 17
Lymphopenia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Chorea, Leukopeni... OMIM:301080
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Congenital Enterovirus Infection
Abnormal bleeding, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thromboc... ORPHA:292
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Increased circulatin... ORPHA:542323
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... ORPHA:93160
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... ORPHA:42
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... ORPHA:911
Boutonneuse Fever
Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Abdominal pain, Thrombocytopen... ORPHA:83313
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... ORPHA:371428
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hepatomegaly, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia ... ORPHA:75564
Brunner Syndrome
Diarrhea, Kinetic tremor OMIM:300615
Cinca Syndrome
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly OMIM:607115
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... OMIM:614102
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc... ORPHA:480520
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79239
Frank-Ter Haar Syndrome
Camptodactyly of finger, Osteolysis, Joint stiffness ORPHA:137834
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Increased circulating ferritin concentration, Diarrhea, Vestibular areflexia, At... ORPHA:3240
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Anemia ORPHA:324964
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
B4Galt1-Cdg
Abnormal bleeding, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transamin... ORPHA:79332
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Abdominal pain, Diarrhea, Abnormal lactate dehydrogenase ... ORPHA:54057
46,Xy Sex Reversal 11
Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... OMIM:273250
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Elevated hepatic transaminase, Methylmalonic acidemia, Vomiting, Dystonia,... ORPHA:289504
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Shigellosis
Anorexia, Abnormal blood ion concentration, Uveitis, Sepsis, Paralytic ileus, Bloody diarrhea, Hy... ORPHA:810
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... OMIM:614700
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Diarrhea, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Dermatoosteolysis, Kirghizian Type
Osteoarthritis, Tarsal synostosis, Osteolysis ORPHA:1657
Immunodeficiency 22
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory... OMIM:615758
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... OMIM:617237
Akt2-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased... ORPHA:79085
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Hyperammonemia, Tubulointerstitial n... OMIM:251000
Snakebite Envenomation
Hyponatremia, Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Cardio... ORPHA:449285
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Acute hyperammonemia, Ataxia, Poor appetite, Reye syndrome-like episodes, Hyperglut... ORPHA:927
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Cutaneous abscess OMIM:147060
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno... ORPHA:77259
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Short stature, Primary amenorrhea OMIM:617690
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Pathologic fracture, Osteolysis, Increased susceptibility to fractures ORPHA:52430
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia... OMIM:617591
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Hepat... OMIM:616719
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Abdominal distention, Elevated circulat... OMIM:608104
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Odynophagia, Leukopen... ORPHA:319213
Infantile Myofibromatosis
Bone cyst, Osteolysis, Limitation of joint mobility ORPHA:2591
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Decreased serum iron, Diarrhea, Chronic diarrhea, Chroni... OMIM:614602
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Prolonged bleeding time, Recurrent respiratory infections, Abn... ORPHA:3226
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Decreased beta-glucocerebrosidase le... OMIM:231000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Lymphadenitis, Inflammation of the large inte... OMIM:615895
Premature Ovarian Failure 18
Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Hypoplasia of the ... OMIM:619203
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Sepsis, Tubulointerstitial nephri... ORPHA:37042
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent pneumonia, Chronic diarrhea, Recurrent sinusitis, Recurrent o... OMIM:614379
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Abnormality of the... OMIM:614307
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Hypoplasia of the ... OMIM:619665
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Diarrhea, An... ORPHA:858
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul... OMIM:602080
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Bloody diarrhea, Hypertonia, Hepatic steatosis, Hepatomegaly, Hemolytic anemi... OMIM:615846
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Small intestinal dysmotility, Poor appetite, Abdominal pain, Cache... ORPHA:298
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Recurrent respiratory infections, Elevated circulating creatine kinase concentration, Tremor, Ton... OMIM:159950
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... OMIM:211600
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... OMIM:617099
Refractory Celiac Disease
Elevated hepatic transaminase, Normocytic anemia, Inflammatory abnormality of the skin, Macrocyti... ORPHA:398063
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Abdominal pain, Diarrhea, Recurrent upper respiratory tract infections, Hyperammonemia, Vomiting,... OMIM:620137
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Tremor, Nasogastric tube feeding in infancy, ... ORPHA:90117
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... ORPHA:98813
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... ORPHA:231393
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, ... ORPHA:167
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Overlap Myositis
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Raynaud phenom... ORPHA:206572
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Vomi... ORPHA:264580
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Abno... ORPHA:398124
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Thrombocyt... ORPHA:905
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Chronic diarrhea, T lymphocytopenia, Colitis, B lymphocytopeni... OMIM:619164
Hereditary Folate Malabsorption
Nausea and vomiting, Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infe... ORPHA:90045
Whim Syndrome 1
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia, Neutr... OMIM:193670
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Recurrent pneumonia... OMIM:617718
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Elevated circulating ... ORPHA:99901
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d... ORPHA:65682
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocytopenia OMIM:619302
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Necrotizing Enterocolitis
Hyponatremia, Shock, Neonatal sepsis, Small for gestational age, Abdominal distention, Peritoniti... ORPHA:391673
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Malnutrition, Decreased LDL cholesterol concentration, Steatorrhea, ... OMIM:246700
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia OMIM:261630
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia OMIM:619301
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Decreased liver function, Spasticity, Failure to thrive, Thrombocytopenia ORPHA:67048
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Thrombocytopenia, Patent ductus arteriosus, Chr... OMIM:617053
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio... OMIM:614069
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutro... OMIM:301078
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Vomiting, Elevated circulating glutaric acid concentration, Hepatic perip... OMIM:231680
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Premature ovarian insufficiency, Short stature, Female infertility OMIM:619518
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... ORPHA:103910
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin OMIM:614962
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, B lymphocytopenia, Abnormally ... OMIM:602450
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated... OMIM:615673
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Knee oste... ORPHA:1304
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Thrombocytop... OMIM:170100
Perrault Syndrome 3
Streak ovary, Short stature, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia of th... OMIM:614129
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... OMIM:614493
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... ORPHA:48818
Roifman Syndrome
Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Legionnaires Disease
Hyponatremia, Nausea and vomiting, Pericarditis, Ataxia, Anorexia, Abdominal pain, Myocarditis, J... ORPHA:549
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Nasogastric tube feeding in infancy, Chorea, Feeding difficulties, Hemiballismus, Frequen... ORPHA:494526
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... ORPHA:521406
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Poor appetite, Tremor, Splenomegaly, Diarrhea, Low alkaline phosphatase, Re... OMIM:201100
Congenital Disorder Of Glycosylation, Type Ib
Abnormal bleeding, Hepatomegaly, Failure to thrive, Diarrhea, Steatorrhea, Hypoalbuminemia, Hepat... OMIM:602579
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... ORPHA:755
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Pancytopenia, Skin ... OMIM:277380
Aicardi-Goutieres Syndrome 5
Chilblains, Feeding difficulties in infancy, Increased circulating interferon-gamma concentration... OMIM:612952
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Telangiectasia, Abnormal circulating glutamine concentratio... ORPHA:101028
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Sepsis, V... ORPHA:94093
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Ataxia, Tremor, Congestive heart failure, Recurrent pneumonia, Neutropenia, Op... OMIM:616271
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate de... OMIM:210250
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Wiskott-Aldrich Syndrome
Recurrent herpes, Sepsis, Large vessel vasculitis, Iron deficiency anemia, Inflammation of the la... OMIM:301000
Gray Platelet Syndrome
Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Splenomegaly, Bruising susceptibility,... ORPHA:721
Sandhoff Disease, Juvenile Form
Incoordination, Reduced beta-hexosaminidase activity, Ataxia, Diarrhea, Abnormal pyramidal sign, ... ORPHA:309162
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... OMIM:606367
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve... ORPHA:100085
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Feeding difficulties, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Failure to thrive, Erythroid hypoplasia, D... OMIM:275350
Yellow Fever
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... ORPHA:99829
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... ORPHA:168563
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf... OMIM:155100
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of... OMIM:208900
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Recurrent viral infect... OMIM:619573
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Increased circulating lactate dehydrogenase concen... ORPHA:824
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... OMIM:618394
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Dysphagia, Feeding d... OMIM:261640
Trehalase Deficiency
Abnormal circulating enzyme concentration or activity, Abdominal pain, Abdominal distention, Diar... ORPHA:103909
Griscelli Syndrome
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased ci... ORPHA:381
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh... ORPHA:99826
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrh... ORPHA:71
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron... OMIM:242700
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Myoclonus OMIM:614018
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... OMIM:619130
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia OMIM:618387
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Thrombocytopenia, Feeding difficultie... OMIM:251100
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... OMIM:616176
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... OMIM:617475
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Decreased ci... ORPHA:101330
Whipple Disease
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Gastrointestinal hemorrhage, Ataxia, Myocardi... ORPHA:3452
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Tremor, Abno... ORPHA:263455
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Leukopenia, Hepatomegaly, Ataxia, Spastic hemiparesis, Leukocytosis, Dilated cardiomyop... ORPHA:20
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... OMIM:300755
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Abnormal circulating calcium concentration, Chorea, Rigidity, Abnormal pyra... OMIM:213600
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Spo... OMIM:214500
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Ataxia, Malnutrition, Spastic tetraplegia, Feeding difficulties, Gastroesophageal reflux, Myoclon... OMIM:619971
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal circulating enzyme concentration or activity, Tremor, Clumsiness, Hepatosplenomegaly, Ey... ORPHA:2590
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Leukopenia, Vomiting, Abno... ORPHA:470
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,... OMIM:277900
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Dysphagia, Focal dystonia, Clums... ORPHA:216873
Pediatric-Onset Graves Disease
Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Atrial fibrillation, Nausea and vomiti... ORPHA:525731
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Nausea, Protein avoidance, Increased circulating ferritin concentrat... OMIM:222700
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Anemia, Ankle clon... OMIM:159550
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... OMIM:619381
Enterokinase Deficiency
Diarrhea, Failure to thrive, Hypoproteinemia OMIM:226200
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Roifman Syndrome
Splenomegaly, Eosinophilia OMIM:616651
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypoplastic anemia, Hep... OMIM:557000
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal bleeding, Acute myeloid leukemia, Anemia of ... ORPHA:86839
Tularemia
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosi... ORPHA:3392
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Increased circulating IgE level, Secretory diarrhea, Hypertension, ... OMIM:616069
Perrault Syndrome 4
Premature ovarian insufficiency, Obesity, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of... OMIM:615300
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Failure to thrive OMIM:619651
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal... ORPHA:85450
Saccharopinuria
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin... ORPHA:3124
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... OMIM:618116
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Low plasma citrulline, Malnutrition... ORPHA:95427
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Abdominal pain, Cryptococcal meningitis, Chronic diarrhea, Func... ORPHA:90362
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Patent ductus arteriosus, Anemia, Thrombocytopenia ORPHA:2123
5-Oxoprolinase Deficiency
Abdominal pain, Diarrhea, Enterocolitis, Reduced 5-oxoprolinase level, Vomiting OMIM:260005
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Abs... OMIM:619693
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Thrombocytop... OMIM:251110
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Dyspha... OMIM:606159
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Chronic infect... ORPHA:520
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Eczema, Abdominal pain, Abdominal diste... OMIM:212750
Congenital Disorder Of Glycosylation, Type Ia
Tremor, Feeding difficulties in infancy, Dysmetria, Hypoalbuminemia, Hepatic fibrosis, Vomiting, ... OMIM:212065
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho... ORPHA:254881
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Eyelid myoclonus, Feeding dif... OMIM:613839
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Ataxia-Telangiectasia
Elevated hepatic transaminase, Recurrent respiratory infections, Failure to thrive, Telangiectasi... ORPHA:100
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s... ORPHA:363400
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... OMIM:614008
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659