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Gene: Chordc1 MGI:1914167

Gene Summary

Name:

cysteine and histidine rich domain containing 1

Synonyms:

1110001O09Rik, morgana, Chp-1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
small kidney	Chordc1^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic lethality prior to organogenesis	Chordc1^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal retina morphology	Chordc1^em1(IMPC)Mbp	HET	Early adult	6.55×10^-05
preweaning lethality, complete penetrance	Chordc1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Chordc1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal skin morphology	Chordc1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal neural tube morphology	Chordc1^em1(IMPC)Mbp	HET	E9.5	0.00
abnormal vitreous body morphology	Chordc1^em1(IMPC)Mbp	HET	Early adult	7.12×10^-05
increased neutrophil cell number	Chordc1^em1(IMPC)Mbp	HET	Early adult	1.75×10^-05
cataract	Chordc1^em1(IMPC)Mbp	HET	Early adult	7.52×10^-05
decreased lymphocyte cell number	Chordc1^em1(IMPC)Mbp	HET	Early adult	8.85×10^-05

Download data as: TSV XLS

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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.

Gross Morphology Embryo E9.5

Images

6 Images

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Human diseases caused by Chordc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Chordc1 (0 diseases)
Human diseases predicted to be associated with Chordc1 (1381 diseases)

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

The table below shows human diseases predicted to be associated to Chordc1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo...	OMIM:133180
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia	OMIM:613977
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Glut1 Deficiency Syndrome 2	Tremor, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Hemolytic anemia	OMIM:612126
Glutamate-Cysteine Ligase Deficiency	Jaundice, Reticulocytosis, Hepatosplenomegaly, Ataxia, Hemolytic anemia	ORPHA:33574
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi...	ORPHA:98849
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis, ...	ORPHA:71493
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Hepatomegaly, Pancytopenia, Lymphocytosis, Lymphoma, Splenomegaly, Hemoly...	OMIM:614470
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo...	OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra...	ORPHA:75564
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia...	ORPHA:231401
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Ataxia, Splenomegaly	ORPHA:2274
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia, Ataxia	ORPHA:2802
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Fanconi Anemia, Complementation Group G	Anemia, Leukemia, Thrombocytopenia, Myelodysplasia, Neutropenia	OMIM:614082
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Myelody...	ORPHA:846
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean corpuscular volume, Lethar...	OMIM:611590
Mantle Cell Lymphoma	B-cell lymphoma, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Hypermanganesemia With Dystonia 1	Decreased liver function, Bradykinesia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:613280
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli...	OMIM:266200
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Lymphoproliferat...	ORPHA:90033
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating hepatic transaminase concentration, Hodgkin lymphoma, Splenomegaly, Reduced ...	ORPHA:158057
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Anemia, Sideroblastic, 4	Sideroblastic anemia, Refractory anemia with ringed sideroblasts, Abnormal erythrocyte morphology	OMIM:182170
Dysplasia Of Head Of Femur, Meyer Type	Enlarged tonsils, Leukocytosis	ORPHA:168621
Ataxia-Pancytopenia Syndrome	Babinski sign, Anemia, Pancytopenia, Ankle clonus, Thrombocytopenia, Ataxia, Acute myelomonocytic...	OMIM:159550
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin...	OMIM:153600
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count, Weight loss	ORPHA:100024
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia	ORPHA:517
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Babinski sign, Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Dysdiadochokinesis, In...	OMIM:301310
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia	OMIM:206200
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Lymphoma, Bone marrow hypocellularity, Leukopenia, Refractor...	OMIM:616871
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Splenomegaly, Acute myelomonocytic leukemia...	ORPHA:2585
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Anisocytosis, Hepatomegaly, Hypertonia	OMIM:604273
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Ataxia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly, Myelodysplasia	OMIM:162830
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope...	OMIM:615285
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple...	OMIM:618963
Rh Deficiency Syndrome	Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl...	ORPHA:71275
Hereditary Spherocytosis	Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia	OMIM:252270
Rh-Null, Amorph Type	Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis	OMIM:617970
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Hemiparesis, Splenomegaly, Lymphopenia, Autoimmune ...	ORPHA:444463
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation	OMIM:131440
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso...	ORPHA:3226
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Panc...	ORPHA:98850
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Tetraplegia, Myoclonus,...	OMIM:618278
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Weight loss, Breast carcinoma, B-cell lymp...	ORPHA:86893
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,...	OMIM:301083
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis, Myelody...	ORPHA:3318
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
X-Linked Retinoschisis	Cataract, Retinoschisis	ORPHA:792
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp...	OMIM:209950
Sickle Cell Anemia	Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia,...	OMIM:619151
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Reticulocytosis, Decreased hemoglobin concentration, Ataxia, Hemolytic anemia	ORPHA:713
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum...	ORPHA:98870
Immunodeficiency 16	Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia	OMIM:615593
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Immunodeficiency 21	Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp...	OMIM:614172
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly, ...	ORPHA:66661
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Cataract	ORPHA:2253
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Aplastic anemia, Cirrhosis, Anemia, Mediastinal lymphadenopathy, Pancytopenia, Bone marrow hypoce...	OMIM:614742
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Aplastic anemia, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia	OMIM:614743
Bardet-Biedl Syndrome 18	Retinal dystrophy, Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Rod-cone dystrophy	OMIM:615995
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Sweet Syndrome	Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Breast...	ORPHA:3243
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Fanconi Anemia, Complementation Group T	Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:616435
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity, Multiple lineage myelodysplasi...	ORPHA:98827
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukopenia, Leukemia	OMIM:620400
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach...	ORPHA:179
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma	OMIM:247640
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Verrucae, Myelodysplasia, Decreased CD4:CD8 ratio, Leukemia	OMIM:614038
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Weight loss, Hepatomegaly	ORPHA:79238
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:205950
Desmoplastic Small Round Cell Tumor	Neoplasm of the central nervous system, Neoplasm of the pancreas, Ovarian neoplasm, Anemia, Hepat...	ORPHA:83469
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Myoclonus, Hypersplenism	OMIM:610539
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Leuk...	ORPHA:824
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno...	OMIM:617514
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Weight l...	ORPHA:514
Rhabdoid Tumor	Neoplasm of the central nervous system, Renal neoplasm, Anemia, Lymphadenopathy, Cerebral palsy, ...	ORPHA:69077
N Syndrome	Spasticity, Leukemia, Neoplasm	OMIM:310465
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentrati...	OMIM:232800
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Lymphoma, Ascites, Splenomegaly	ORPHA:100025
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Clumsiness, Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia	OMIM:610738
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Tremor, Rigidity, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Parkinsonism With Spasticity, X-Linked	Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism	OMIM:300911
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th...	OMIM:210250
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly	OMIM:608898
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Immunodeficiency 104	Hepatomegaly, Failure to thrive secondary to recurrent infections, Lymphadenopathy, T lymphocytop...	OMIM:608971
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Reticular Dysgenesis	Anemia, Failure to thrive, Leukopenia, Weight loss, Aplasia/Hypoplasia of the thymus, Abnormality...	ORPHA:33355
Li-Fraumeni Syndrome	Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp...	ORPHA:524
Wiskott-Aldrich Syndrome	Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Lymphoma, Abnor...	ORPHA:906
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Hepatomegaly, Splenomegaly	OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Chromosome 5Q Deletion Syndrome	Myelodysplasia, Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia	OMIM:153550
Dystonia, Dopa-Responsive	Bradykinesia, Babinski sign, Torticollis, Resting tremor, Incoordination, Spasticity, Parkinsonis...	OMIM:128230
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Hepatomegaly, Anemia, Lethargy	ORPHA:28
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Combined Saposin Deficiency	Babinski sign, Hyperkinetic movements, Hepatomegaly, Fasciculations, Splenomegaly, Myoclonus	OMIM:611721
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Elliptocytosis 2	Elliptocytosis, Hemolytic anemia, Reticulocytosis	OMIM:130600
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati...	ORPHA:848
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Wilson Disease	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Cataract, Optic disc pallor	OMIM:165300
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:615085
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypertonia, Anemia, Myoclonus	OMIM:610090
Coats Disease	Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma...	ORPHA:190
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Refractory anemia with ringed sideroblasts, Bone marr...	ORPHA:318
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Bradykinesia, Hypertonia, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	ORPHA:309854
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Morm Syndrome	Cataract, Retinal atrophy, Micropenis, Retinal dystrophy	ORPHA:75858
Spinocerebellar Ataxia Type 12	Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t...	ORPHA:98762
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Spinocerebellar Ataxia Type 20	Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l...	ORPHA:101110
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613801
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly, Myoclonus	ORPHA:139406
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Tremor, Reticulocytosis, Prolonged neonatal jaundice, Thrombocytopenia, Microangiopathi...	OMIM:274150
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Myelodysplasia, Reduced alpha/beta synthesis ratio	OMIM:300448
Sandhoff Disease	Failure to thrive, Hepatomegaly, Ataxia, Splenomegaly	ORPHA:796
Huntington Disease-Like 1	Abnormal posturing, Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Frequent ...	ORPHA:157941
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Mismatch Repair Cancer Syndrome 2	T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme	OMIM:619096
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis	OMIM:266120
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin, Reticulocytosis, Hodgkin lymphoma, B...	ORPHA:3261
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Nephronophthisis	Anemia	ORPHA:655
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ...	ORPHA:54251
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Sple...	OMIM:269840
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Decreased body weight, Ataxia, Thrombocytopenia, Splenomegaly, Myoclo...	OMIM:231000
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Single lineage m...	ORPHA:98826
Kasabach-Merritt Phenomenon	Hepatic hemangioma, Anemia, Capillary hemangioma, Neoplasm of the skin, Tufted angioma, Abnormal ...	ORPHA:2330
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Choreoathe...	ORPHA:79312
Juvenile Huntington Disease	Bradykinesia, Progressive cerebellar ataxia, Chorea, Gait ataxia, Rigidity, Ataxia, Weight loss, ...	ORPHA:248111
Neurofibromatosis Type 1	Rhabdomyosarcoma, Multiple lipomas, Spinal neurofibroma, Neoplasm of the gastrointestinal tract, ...	ORPHA:636
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr...	OMIM:180104
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Wolman Disease	Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Splenom...	OMIM:613313
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Lymphoma, Splenomegaly	ORPHA:37748
Aicardi-Goutières Syndrome	Hypertonia, Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, ...	ORPHA:51
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss	OMIM:606438
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth...	ORPHA:729
Immunodeficiency 84	B lymphocytopenia, B-cell lymphoma, Splenomegaly, Perianal abscess	OMIM:619437
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia	OMIM:616873
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenom...	OMIM:614480
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Lymphoma, Bone marrow hypocellularity, Ataxia, Splenomegaly, Weigh...	ORPHA:391
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Lymphoma, Splenomeg...	ORPHA:545
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Parkinsonism, Limb dysmetr...	OMIM:213600
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bradykinesia, Babinski sign, Apraxia, Spasticity, Action tremor, Rigidity, Parkinsonism, Slurred ...	OMIM:300423
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, B-cell lymphoma, Lymphoma, Hodgkin lymphoma, Decrea...	OMIM:300853
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Paraparesis, Thrombocytopenia, Leukopenia,...	ORPHA:27
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Dystonia 16	Bradykinesia, Torticollis, Parkinsonism, Abnormal pyramidal sign, Postural tremor	ORPHA:210571
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Viral hepatitis, Multiple myeloma, Weight loss, Monoclonal immunoglob...	ORPHA:91139
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C...	OMIM:613731
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Gait ataxia, Rigidity,...	ORPHA:101150
Fanconi Anemia, Complementation Group D1	T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Failure to thrive, Acute myelo...	OMIM:605724
Spastic Paraplegia 78, Autosomal Recessive	Bradykinesia, Babinski sign, Resting tremor, Gait ataxia, Spastic paraplegia, Ataxia, Parkinsonis...	OMIM:617225
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract	ORPHA:90654
Autosomal Dominant Spastic Paraplegia Type 3	Spastic gait, Babinski sign, Bradykinesia, Lower limb spasticity, Frequent falls, Lower limb hype...	ORPHA:100984
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hodgkin lym...	OMIM:619375
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
Thymoma	Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Neoplasm of head and neck, Neo...	ORPHA:99867
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Myelodysplasia	ORPHA:721
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Babinski sign, Scissor gait, Spasticity, Tremor, Parkinsonism, Ankle clonus	ORPHA:521406
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Hepatomegaly, Spasticity, Tremor, Frequent falls, Gait ataxia, Hepatic bridging fibr...	OMIM:616719
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Hemangioma, Acute lymphoblastic leukemia, Myelodysplasia...	ORPHA:486
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:620482
Spinocerebellar Ataxia 17	Bradykinesia, Limb ataxia, Apraxia, Chorea, Gait ataxia, Intention tremor, Rigidity, Ataxia, Park...	OMIM:607136
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech	OMIM:609161
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Li-Fraumeni Syndrome	Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma...	OMIM:151623
Tremor, Hereditary Essential, 5	Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor	OMIM:616736
Spastic Paraplegia 80, Autosomal Dominant	Bradykinesia, Babinski sign, Limb ataxia, Lower limb spasticity, Spastic paraplegia, Upper limb s...	OMIM:618418
Primary Erythromelalgia	Leukemia	ORPHA:90026
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis	OMIM:246470
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg...	OMIM:226990
Wolman Disease	Failure to thrive, Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly, Weight loss	ORPHA:42642
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ...	OMIM:193230
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia	OMIM:183050
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Pontocerebellar Hypoplasia, Type 15	Hypertonia, Anemia, Chronic neutropenia, Thrombocytopenia, Spastic tetraplegia	OMIM:619302
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Bradykinesia, Babinski sign, Hypertonia, Limb ataxia, Rigidity, Parkinsonism	OMIM:618824
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Anemia, Chorea, Hemiplegia/hemiparesis, Thrombocytopenia, Choreoathet...	ORPHA:289916
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication	OMIM:613643
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,...	OMIM:615438
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch...	ORPHA:231736
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia, Ascites	ORPHA:295
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	OMIM:613101
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Normochromic anemia, Failure to thrive, Thrombocytopenia, Lethargy, Neutropenia	OMIM:614857
Parkinson Disease 6, Autosomal Recessive Early-Onset	Bradykinesia, Resting tremor, Parkinsonism, Rigidity	OMIM:605909
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hemiparesis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis	OMIM:235400
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Shwachman-Diamond Syndrome 1	Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra...	OMIM:260400
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Hype...	OMIM:615387
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed siderobl...	OMIM:619523
Caribbean Parkinsonism	Bradykinesia, Apraxia, Action tremor, Rigidity, Parkinsonism, Myoclonus, Weakness due to upper mo...	ORPHA:97355
Retinopathy Of Prematurity	Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog...	ORPHA:90050
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Ataxia, Parkinsonism, Choreoathetosi...	OMIM:261640
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, B-cell lymphoma	OMIM:619164
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Bradykinesia, Chorea, Ataxia, Parkinsonism, Abnormal pyramidal sign, Dysmetria, Slurred speech	OMIM:618317
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Spastic gait, Abnormal pyramidal sign, Spastic tetraparesis, Bradykinesia	OMIM:619052
Parkinson Disease 19A, Juvenile-Onset	Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Rigidity, Parkinsonism, Abnormal ...	OMIM:615528
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Decr...	OMIM:618495
Cyanide-Induced Parkinsonism-Dystonia	Bradykinesia, Resting tremor, Parkinsonism, Rigidity	ORPHA:306692
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:616710
Cutaneous Neuroendocrine Carcinoma	Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Chronic nonin...	ORPHA:79140
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Spasticity, ...	OMIM:610333
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Chorea, Ataxia, Lethargy	OMIM:618683
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Jaundice, Cholestasis, Failure to thrive, Splenomegaly, Neoplasm	ORPHA:172
Nut Midline Carcinoma	Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom...	ORPHA:443167
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Parkinsonism With Polyneuropathy	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:619279
Galactosemia Iii	Failure to thrive, Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Dystonia 12	Bradykinesia, Parkinsonism, Tremor, Torticollis	OMIM:128235
Rapid-Onset Dystonia-Parkinsonism	Bradykinesia, Torticollis, Resting tremor, Gait ataxia, Parkinsonism	ORPHA:71517
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Optic disc drusen, C...	OMIM:611040
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Failure to thrive, Splenomeg...	ORPHA:77297
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Vacuolated lymphocytes, Cataract, Retinal degeneration, Rod-...	OMIM:204200
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Hereditary Methemoglobinemia	Hypertonia, Spasticity, Athetosis, Spastic tetraplegia, Small for gestational age, Methemoglobinemia	ORPHA:621
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Follicular hyperplasia, Hepatomegaly, Mediastinal lymphadenopathy, L...	OMIM:615559
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Optic disc drusen, Cystoid macular ed...	OMIM:600059
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, F...	OMIM:275350
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:612527
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Siderob...	OMIM:613561
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Cerebellar Ataxia, Cayman Type	Bradykinesia, Truncal ataxia, Intention tremor, Gait ataxia, Ataxia	OMIM:601238
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate...	ORPHA:231222
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Dysdiadochokinesis, Rigidity	ORPHA:228169
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Failure to thrive, Exocrine pancreatic i...	OMIM:612714
Rosaï-Dorfman Disease	Paraplegia, Anemia, Lymphadenopathy	ORPHA:158014
Diamond-Blackfan Anemia 12	Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti...	OMIM:615550
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Spasticity, Atheto...	OMIM:257200
Spinocerebellar Ataxia, Autosomal Recessive 32	Bradykinesia, Limb ataxia, Torticollis, Gait ataxia, Limb myoclonus, Postural tremor	OMIM:619862
Huntington Disease	Bradykinesia, Babinski sign, Decreased body mass index, Chorea, Poor fine motor coordination, Inv...	ORPHA:399
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Bradykinesia, Rigidity	ORPHA:306686
Babesiosis	Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia, Hepatic fai...	ORPHA:108
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Tremor, Polycythemia, Opisthotonus, Methemoglobinemia	OMIM:250800
Immunodeficiency 46	Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretin...	ORPHA:1473
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Nasu-Hakola Disease	Acute leukemia, Chorea, Spasticity, Oculomotor apraxia	ORPHA:2770
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Meningioma, Leukemia	OMIM:602501
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin...	OMIM:615157
Abetalipoproteinemia	Babinski sign, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concent...	ORPHA:14
Huntington Disease	Bradykinesia, Chorea, Rigidity, Gait ataxia	OMIM:143100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Lymphoma, Bone marrow hypo...	ORPHA:47612
Majeed Syndrome	Anemia of inadequate production, Failure to thrive, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Lymphoma	ORPHA:99812
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Babinski sign, Increased mitochondrial number	OMIM:619063
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Glioma Susceptibility 3	Acute myeloid leukemia, Medulloblastoma, Astrocytoma, B Acute Lymphoblastic Leukemia, Glioblastom...	OMIM:613029
Infantile Dystonia-Parkinsonism	Bradykinesia, Hypertonia, Limb hypertonia, Chorea, Cerebral palsy, Parkinsonism, Abnormal pyramid...	ORPHA:238455
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Bradykinesia, Apraxia, Spasticity, Rigidity, Parkinsonism	OMIM:221820
Diamond-Blackfan Anemia 5	Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia	OMIM:612528
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Beta-Propeller Protein-Associated Neurodegeneration	Bradykinesia, Tremor, Rigidity, Parkinsonism, Spastic paraparesis	ORPHA:329284
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A...	OMIM:204100
Tyrosinemia Type 1	Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly, Hepatomegaly	ORPHA:882
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Diffuse Neonatal Hemangiomatosis	Hemangiomatosis, Anemia, Hepatomegaly, Ascites, Thrombocytopenia, Visceral angiomatosis	ORPHA:2123
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	ORPHA:240085
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Lymphoma, Ataxia, Splenomegaly, Monoclonal immu...	ORPHA:33226
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Rigidity, Tremor, Ataxia	OMIM:617836
Cronkhite-Canada Syndrome	Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Cachexia, Hamartomatous polyposis, Co...	ORPHA:2930
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,...	ORPHA:891
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Hypoplasia of the thymus, L...	OMIM:208900
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ...	OMIM:618849
Neuroblastoma, Susceptibility To, 1	Anemia, Abdominal mass, Neuroblastoma, Failure to thrive, Ataxia, Ganglioneuroma, Myoclonus, Weig...	OMIM:256700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Spastic paraplegia, O...	OMIM:300055
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Hemiparesis, Tremor, Parkinsonism	ORPHA:306669
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Bradykinesia, Limb hypertonia, Tremor, Cerebral palsy, Rigidity, Small for gestational age	ORPHA:70594
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Azoospermia...	ORPHA:300298
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt...	OMIM:206100
Congenital Erythropoietic Porphyria	Squamous cell carcinoma, Neoplasm of the skin, Reticulocytosis, Poikilocytosis, Anisocytosis, Leu...	ORPHA:79277
Eosinophilic Gastroenteritis	Anemia, Ascites, Leukocytosis, Weight loss, Eosinophilia	ORPHA:2070
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hodgkin lymphoma, Splenomegaly, Generalized lymphadenopathy, Absent circulating B c...	OMIM:620282
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphoma, Ascites...	OMIM:615122
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Lymphoma, Fa...	ORPHA:39041
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio...	OMIM:613835
Leber Optic Atrophy And Dystonia	Bradykinesia, Spasticity, Athetosis, Upper motor neuron dysfunction	OMIM:500001
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Bradykinesia, Lower limb spasticity	OMIM:618878
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis, Lymphopenia	OMIM:247800
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Malaria	Thrombocytopenia, Anemia	ORPHA:673
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin...	OMIM:251270
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Hypertonia, Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign	OMIM:617435
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Classic Mycosis Fungoides	Hepatomegaly, Lymphadenopathy, Neoplasm of the skin, Abnormal lymphocyte morphology, Lymphoma, Sp...	ORPHA:2584
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Immunodeficiency 102	Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De...	OMIM:301082
Kaposi Sarcoma	Neoplasm of the skin, Neoplasm by anatomical site, Hemangioma, Abnormality of the spleen, Weight ...	ORPHA:33276
Neurodegeneration With Brain Iron Accumulation 6	Spastic tetraplegia, Spastic paraparesis, Rigidity, Bradykinesia	OMIM:615643
Corticobasal Syndrome	Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo...	ORPHA:454887
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Failure to th...	OMIM:603554
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Spinocerebellar Ataxia 2	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc...	OMIM:183090
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor...	ORPHA:100026
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
X-Linked Agammaglobulinemia	Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Failure to thrive, Throm...	ORPHA:47
Pulmonary Blastoma	Pleuropulmonary blastoma, Weight loss	ORPHA:64741
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Refractory Celiac Disease	Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi...	ORPHA:398063
Pearson Syndrome	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepa...	ORPHA:699
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares...	ORPHA:282166
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ...	OMIM:618805
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Thr...	OMIM:614727
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransferase concentration, Asple...	OMIM:614034
Shwachman-Diamond Syndrome	Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro...	ORPHA:811
Senior-Loken Syndrome	Nephronophthisis, Retinal dystrophy, Abnormality of retinal pigmentation, Chronic kidney disease,...	ORPHA:3156
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Sandifer Syndrome	Abnormal posturing, Anemia, Torticollis	ORPHA:71272
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:301045
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Small for gestational age, Leukemia, N...	OMIM:600901
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia, Macrothrombocytopenia	OMIM:187800
Galactosemia Ii	Cataract, Galactosuria	OMIM:230200
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Bradykinesia, Hypertonia, Parkinsonism, Limb hypertonia	OMIM:617384
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Isolated Agammaglobulinemia	Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp...	ORPHA:229717
Storage Pool Platelet Disease	Acute leukemia, Myelodysplasia, Decreased mean platelet volume	OMIM:185050
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Anemia, Splenomegaly	ORPHA:1046
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Pancreatitis, Leukocytosis, Reticulocytosis, Thrombocytopenia, Peritonitis, Microangiopathic hemo...	ORPHA:90038
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly, Cirrhosis	ORPHA:101028
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Abscess, Intermittent thrombocytopenia, Splenomegaly, Abnorma...	OMIM:150550
Ollier Disease	Anemia, Hemangioma, Chondrosarcoma, Sarcoma, Lymphangioma, Neoplasm, Multiple enchondromatosis, V...	ORPHA:296
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Lymphoma, Failure to thr...	ORPHA:397596
Cold Agglutinin Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia	ORPHA:56425
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Reduced natural killer cell count...	OMIM:609981
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, L...	ORPHA:829
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly, Reduced natural killer c...	OMIM:616050
Dravet Syndrome	Bradykinesia, Incoordination, Poor fine motor coordination, Cogwheel rigidity, Action tremor, Rig...	ORPHA:33069
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Bradykinesia, Parkinsonism	ORPHA:412066
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Eyelid myoclonus, Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megalo...	OMIM:613839
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Decreased proportion of memory T cells, V...	OMIM:620632
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res...	OMIM:606693
Autosomal Recessive Progressive External Ophthalmoplegia	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Cogwheel rigidity,...	ORPHA:254886
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:618116
Griscelli Syndrome Type 2	Hypertonia, Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly...	ORPHA:79477
Dystonia 31	Abnormal posturing, Parkinsonism	OMIM:619565
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Head ti...	OMIM:618877
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Hepatomegaly, Anemia, Weight loss	ORPHA:1842
Mismatch Repair Cancer Syndrome 1	Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Ependymom...	OMIM:276300
Caroli Disease	Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepato...	ORPHA:53035
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Anemia, Hepatomegaly, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Small for gestational age, Leukemia, N...	OMIM:227650
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Babinski sign, Bradykinesia, Progressive extrapyramidal muscular rigidity, Ch...	ORPHA:225147
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Leber Congenital Amaurosis 1	Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessels, Hyperthreon...	OMIM:204000
Hemochromatosis, Type 4	Hepatic steatosis, Cirrhosis, Hepatomegaly, Anemia	OMIM:606069
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cogwheel rigidity, Rigidity, Pa...	OMIM:613135
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Bradykinesia, Hypertonia, Hyperkinetic movements, Abnormality of extrapyramidal motor function, C...	ORPHA:13
Generalized Epilepsy With Febrile Seizures-Plus	Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Ataxia	ORPHA:36387
Gaucher Disease Type 2	Spasticity, Hepatomegaly, Splenomegaly	ORPHA:77260
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Coach Syndrome 3	Portal fibrosis, Anemia, Ataxia, Oculomotor apraxia	OMIM:619113
Chilblain Lupus	Chronic myelomonocytic leukemia	ORPHA:90280
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Ataxia, Splenomegaly, Macrocytic anemia	OMIM:619046
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:620603
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Failure to thrive, Throm...	OMIM:606003
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa...	OMIM:137440
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c...	ORPHA:363654
Machado-Joseph Disease	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula...	OMIM:109150
Coproporphyria, Hereditary	Respiratory paralysis, Jaundice, Splenomegaly, Hepatomegaly	OMIM:121300
Lig4 Syndrome	Pancytopenia, Failure to thrive, Acute lymphoblastic leukemia, Thrombocytopenia, Small for gestat...	OMIM:606593
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Bradykinesia, Truncal ataxia, Incoordination, Episodic ataxia, Gait ataxia, Hemiparesis, Ataxia, ...	OMIM:601338
Huntington Disease-Like 2	Chorea, Parkinsonism, Weight loss, Involuntary movements	ORPHA:98934
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Spastic diplegia	ORPHA:290
Spinocerebellar Ataxia 10	Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Progressive cerebellar ataxia, Abn...	OMIM:603516
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Lesch-Nyhan Syndrome	Hemiplegia/hemiparesis, Spasticity, Anemia	ORPHA:510
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Failure to thrive, Splenomegaly, Cardiomegaly	OMIM:269920
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula...	OMIM:133780
Free Sialic Acid Storage Disease	Hepatomegaly, Oculomotor apraxia, Spasticity, Athetosis, Ascites, Ataxia, Splenomegaly, Abnormal ...	ORPHA:834
Microphthalmia/Coloboma 12	Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla...	OMIM:120200
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Subcutaneous panniculitis-like T-cell lymphoma, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Limb hypertonia...	OMIM:613489
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Micropenis, Retinal dystrophy	OMIM:610156
Aicardi-Goutieres Syndrome 9	Hypertonia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Spasti...	OMIM:619487
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradykinesia, Lower limb spasticity, Oromotor apraxia, Spasticity, Paraparesis, Ataxia, Myoclonus...	OMIM:617854
Aceruloplasminemia	Anemia, Torticollis, Abnormality of extrapyramidal motor function, Chorea, Blepharospasm, Cogwhee...	OMIM:604290
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Lymphoma, Abnormal T cell count, Splenomegaly, Neoplasm, Follicula...	OMIM:240500
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Spasticity, Ascites, Bone marrow hypocellularity, Thromb...	ORPHA:381
Exfoliation Syndrome	Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in...	OMIM:177650
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Decreased ...	ORPHA:231214
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertonia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Tetraplegia, Failu...	OMIM:267700
Hemochromatosis, Type 3	Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Lymphopenia, Neutropenia	OMIM:604250
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Anemia, Leukocytosis, Weight loss	ORPHA:90060
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Small for...	OMIM:227645
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Exudative Vitreoretinopathy 4	Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme...	OMIM:601813
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Hepatic steatosis, Hepatic failure	OMIM:617872
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly, Lethargy	OMIM:602390
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma, Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Anemia, Small for gestational age	OMIM:620135
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Weight loss, N...	ORPHA:520
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis, Weight loss	ORPHA:86884
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Neoplasm of the skin, Abnormal lymphocyte morphology, Tremor, Lymp...	ORPHA:3162
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Childhood-Onset Nemaline Myopathy	Clumsiness, Slender build, Bradykinesia	ORPHA:171439
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Peripheral Primitive Neuroectodermal Tumor	Spinal cord tumor, Pelvic mass, Neoplasm of the pancreas, Anemia, Ovarian neoplasm, Jaundice, Pan...	ORPHA:370348
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Cataract 9, Multiple Types	Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Galactosemia I	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating alanine aminotransferase ...	OMIM:230400
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
Multiple System Atrophy	Bradykinesia, Progressive cerebellar ataxia, Resting tremor, Frequent falls, Gait ataxia, Rigidit...	ORPHA:102
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Progressive spasticity, Failure to thrive, Ataxia	ORPHA:251009
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Hematuria, Chorioretinal coloboma, Iris coloboma	OMIM:120433
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertonia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenopathy, Elev...	OMIM:603553
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Dystonia 16	Bradykinesia, Retrocollis, Involuntary movements, Abnormal pyramidal sign, Parkinsonism, Postural...	OMIM:612067
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi...	OMIM:619802
Spinocerebellar Ataxia Type 1	Bradykinesia, Progressive cerebellar ataxia, Fasciculations, Chorea, Dysdiadochokinesis, Postural...	ORPHA:98755
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber, Peripheral vitr...	OMIM:305390
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Testicular seminoma	ORPHA:281090
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,...	OMIM:312600
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Parkinson Disease 17	Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Neurodegeneration With Brain Iron Accumulation 1	Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Bl...	OMIM:234200
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymu...	OMIM:300400
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Fetal Gaucher Disease	Hypertonia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Caspase 8 Deficiency	Lymphadenopathy, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Spastic ...	ORPHA:20
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia	OMIM:620210
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss	ORPHA:3165
Multiple System Atrophy, Parkinsonian Type	Bradykinesia, Progressive cerebellar ataxia, Resting tremor, Frequent falls, Gait ataxia, Rigidit...	ORPHA:98933
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Paroxysmal Nocturnal Hemoglobinuria	Jaundice, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Reticulocy...	ORPHA:447
Transcobalamin Deficiency	Acute kidney injury, Pancytopenia, Thrombocytopenia, Lymphopenia, Methylmalonic aciduria, Neutrop...	ORPHA:859
Idiopathic Hypereosinophilic Syndrome	Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Elevated circula...	ORPHA:3260
Alveolar Echinococcosis	Decreased liver function, Liver abscess, Anemia, Jaundice, Cholangitis, Abnormal spleen morpholog...	ORPHA:284
Fragile X Tremor/Ataxia Syndrome	Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Gait ataxia, Acti...	OMIM:300623
Multiple System Atrophy, Cerebellar Type	Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Resting tremor, Frequent falls, Gait at...	ORPHA:227510
Atypical Juvenile Parkinsonism	Bradykinesia, Resting tremor, Gait ataxia, Involuntary movements, Slowed slurred speech, Rigidity...	ORPHA:391411
Mitochondrial Membrane Protein-Associated Neurodegeneration	Bradykinesia, Babinski sign, Spasticity, Frequent falls, Rigidity, Parkinsonism, Spastic parapare...	ORPHA:289560
Myopathy With Extrapyramidal Signs	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormality of extrapyrami...	OMIM:615673
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Abnormal T cell count, Abnormal B cell count, Autoimmune thrombocy...	OMIM:613496
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr...	ORPHA:99750
Porphyria Due To Ala Dehydratase Deficiency	Myeloproliferative disorder, Abnormal erythrocyte enzyme concentration or activity	ORPHA:100924
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Ataxia, Parkinsonism, ...	OMIM:619725
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Prolidase Deficiency	Hepatomegaly, Anemia, Prolonged neonatal jaundice, Failure to thrive, Thrombocytopenia, Splenomeg...	OMIM:170100
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ...	OMIM:557000
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic...	ORPHA:77259
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Castleman Disease	Jaundice, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Abdominal mass, Thrombocytopenia,...	ORPHA:160
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia	ORPHA:51208
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Multiple myeloma, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Macrovesicular hepati...	ORPHA:298
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ...	OMIM:300751
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Ataxia, Weight loss, Lethargy	ORPHA:79242
Laryngeal Neuroendocrine Tumor	Neoplasm of the larynx, Weight loss, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm	ORPHA:100083
Choreoacanthocytosis	Bradykinesia, Hypertonia, Hepatomegaly, Hyperkinetic movements, Resting tremor, Chorea, Abnormal ...	ORPHA:2388
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Failure to thrive, Lymph node hypoplasia,...	OMIM:602450
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Hydroureter, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thrombocy...	OMIM:598500
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity, Ataxia, Parkins...	OMIM:606159
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Failure to thrive, Thrombocytop...	OMIM:304790
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Hepatomegaly, Ascites, Weight loss	ORPHA:2198
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Beta-Ketothiolase Deficiency	Hepatomegaly, Spasticity, Leukocytosis, Extrapyramidal dyskinesia, Ataxia, Weight loss, Thrombocy...	ORPHA:134
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Splenomegaly, Myoclonus, C...	OMIM:256550
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Lymphade...	OMIM:619644
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Tularemia	Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Oslam Syndrome	Osteosarcoma, Anemia, Neoplasm	OMIM:165660
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Tremor, Lympho...	OMIM:613179
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Mediastinal lymphadenopathy, Weight loss	ORPHA:133
Neuroblastoma	Anemia, Lymphadenopathy, Neoplasm of the nervous system, Abdominal mass, Neuroblastoma, Thrombocy...	ORPHA:635
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Abnormality of the pancreas, Hepatomegaly, Elevated circulat...	ORPHA:400
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Clumsiness, Postural tremor	OMIM:619911
Adult-Onset Nemaline Myopathy	Bradykinesia	ORPHA:171442
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth...	OMIM:212550
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran...	OMIM:618935
Parkinson Disease 7, Autosomal Recessive Early-Onset	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bl...	OMIM:606324
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc...	OMIM:610377
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Propionic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Limb hypertonia, Pancytopenia, Failure to thrive, Thrombocyto...	OMIM:606054
Trichothiodystrophy 6, Nonphotosensitive	Small for gestational age, Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Combined Oxidative Phosphorylation Deficiency 12	Bradykinesia, Babinski sign, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Spastic...	OMIM:614924
Hypermanganesemia With Dystonia 2	Bradykinesia, Babinski sign, Scissor gait, Spasticity, Tremor, Lower limb hypertonia, Opisthotonu...	OMIM:617013
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Elevated circulating hepatic transaminase concentration, Anemia, Leu...	ORPHA:67
Perry Syndrome	Bradykinesia, Tremor, Rigidity, Parkinsonism, Weight loss	OMIM:168605
Tufted Angioma	Anemia, Neoplasm of the skin, Hemangioma of the lip, Thrombocytopenia, Facial hemangioma	ORPHA:1063
Classic Galactosemia	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Postural tremor,...	ORPHA:79239
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
X-Linked Dystonia-Parkinsonism	Bradykinesia, Resting tremor, Chorea, Progressive extrapyramidal muscular rigidity, Parkinsonism ...	ORPHA:53351
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Bradykinesia, Babinski sign, Limb ataxia, Truncal ataxia, Intention tremor, Gait ataxia, Rigidity...	OMIM:258450
Farber Lipogranulomatosis	Failure to thrive, Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Isolated Congenital Hypoglossia/Aglossia	Hamartoma, Weight loss	ORPHA:141152
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal dense granule content, Abnormal platelet shape, Acute monocytic ...	OMIM:601399
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Ataxia, Splenomegaly, Myoclonus, Slurred speech	OMIM:230650
Joubert Syndrome 33	Ataxia, Splenomegaly, Oculomotor apraxia	OMIM:617767
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, F...	OMIM:617591
Gaucher Disease, Type Ii	Hypertonia, Hepatomegaly, Anemia, Oculomotor apraxia, Spasticity, Failure to thrive, Rigidity, Th...	OMIM:230900
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Failure to thrive, Enlarged t...	OMIM:308230
Turcot Syndrome With Polyposis	Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Ataxia, Desmoid tumors, Neop...	ORPHA:99818
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Hemangioma, Polycythemia, Splenomegaly, We...	ORPHA:2905
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane...	OMIM:221900
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Sialidosis Type 2	Hepatomegaly, Tremor, Ascites, Ataxia, Splenomegaly	ORPHA:87876
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Hurler-Scheie Syndrome	Abnormal pyramidal sign, Abnormality of the tonsils, Hepatomegaly, Splenomegaly	ORPHA:93476
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Hoyeraal-Hreidarsson Syndrome	Hypertonia, Anemia, Abnormal leukocyte morphology, Bone marrow hypocellularity, Failure to thrive...	ORPHA:3322
Triosephosphate Isomerase Deficiency	Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Osteootohepatoenteric Syndrome	Portal fibrosis, Anemia, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundi...	OMIM:619377
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic gait, Decreased liver function, Hepatomegaly, Acute hepatitis, Truncal ataxia, Spasticity...	OMIM:238970
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Slowed slurred speech	OMIM:619827
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemi...	OMIM:617021
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Weight loss	ORPHA:1302
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocy...	OMIM:227646
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Bloom Syndrome	Squamous cell carcinoma, Azoospermia, Lymphoma, Elevated hemoglobin A1c, Hepatic steatosis, Small...	OMIM:210900
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Spinocerebellar Ataxia Type 13	Bradykinesia, Limb ataxia, Torticollis, Titubation, Gait ataxia, Myoclonus, Clumsiness	ORPHA:98768
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Elevated circulatin...	OMIM:602347
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Mulibrey Nanism	Cachexia, Hepatomegaly	ORPHA:2576
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis, Weight loss	ORPHA:2902
Mevalonic Aciduria	Ataxia, Splenomegaly	ORPHA:29
Inflammatory Pseudotumor Of The Liver	Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography...	ORPHA:90003
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Focal Segmental Glomerulosclerosis 1	Anemia, Ascites	OMIM:603278
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Weight loss, B-cell lymphoma	ORPHA:52417
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Combined Oxidative Phosphorylation Deficiency 53	Failure to thrive, Spasticity, Hepatomegaly, Hypochromic microcytic anemia	OMIM:619423
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:33577
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly, Facial par...	OMIM:259700
Gyrate Atrophy Of Choroid And Retina	Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c...	ORPHA:414
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Spasticity, Cataplexy, Gait ataxia,...	OMIM:257220
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Norrie Disease	Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of...	OMIM:310600
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act...	OMIM:611881
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Failure to thrive, Microcytic anemia	ORPHA:98791
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate...	ORPHA:158048
Takayasu Arteritis	Anemia, Weight loss	ORPHA:3287
Systemic Capillary Leak Syndrome	Pancreatitis, Leukocytosis, Weight loss, Multiple myeloma	ORPHA:188
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Tremor, Leukopenia, Splenomega...	OMIM:214500
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait...	OMIM:600116
Spinocerebellar Ataxia 48	Babinski sign, Chorea, Cachexia, Tremor, Gait ataxia, Ataxia, Parkinsonism, Dysmetria	OMIM:618093
Intermediate Uveitis	Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V...	ORPHA:279914
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Rhabdomyosarcoma, T-cell lymphoma, Cachexia, Lymphom...	ORPHA:647
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Squamous cell carcinoma of the skin, Portal hypertension, Thrombocytopenia, Lymphopenia, ...	OMIM:620365
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Tremor, Rigidity, Parkinsonism, Spastic paraparesis	OMIM:300894
Postencephalitic Parkinsonism	Bradykinesia, Babinski sign, Resting tremor, Tremor by anatomical site, Cogwheel rigidity, Involu...	ORPHA:97349
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarcinoma, Lym...	ORPHA:1333
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hypertonia, Jaundice, Hepatomegaly, Spasticity, Ataxia, Splenomegaly, Stomatocytosis, Hemolytic a...	OMIM:608885
Mcleod Syndrome	Hepatomegaly, Chorea, Elevated circulating alanine aminotransferase concentration, Splenomegaly, ...	OMIM:300842
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Laryngeal papilloma, Failure to thrive, Splenomegaly, ...	OMIM:617388
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response ...	ORPHA:240071
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch...	ORPHA:100075
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, G...	ORPHA:781
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Ascites, Failure to thrive, Thromboc...	OMIM:608104
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Ascites, Thrombocytosis	OMIM:226300
Whipple Disease	Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Cachexia, Ataxia, Splenomegaly, Myoclonus, Abn...	ORPHA:3452
Cataract 47	Cataract, Glycosuria, Microcornea	OMIM:612018
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormal mesentery morphology, Abnormality of the spleen	ORPHA:93941
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Typhoid	Hypertonia, Hepatomegaly, Tremor, Ataxia, Splenomegaly, Lethargy	ORPHA:99745
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Elevated circu...	OMIM:607765
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Macrocytic anemi...	OMIM:212750
Copper Deficiency, Familial Benign	Failure to thrive, Anemia	OMIM:121270
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Pyoderma Gangrenosum	Myelodysplasia, Myeloid leukemia	ORPHA:48104
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Erythrocytosis, Familial, 2	Increased red blood cell mass, Hemangioma, Failure to thrive, Increased circulating hemoglobin co...	OMIM:263400
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphoma, Gastrointesti...	ORPHA:1572
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Anemia, Pancytopenia, Tremor, Failure to thrive, Thrombocytopenia, Lethargy, Neutro...	OMIM:251100
Letterer-Siwe Disease	Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Lethargy, Neutropenia	OMIM:251110
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce...	OMIM:615486
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Neoplasm, Hemolytic anemia	ORPHA:169090
Down Syndrome	Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutrophilia, Thrombocytopenia, Obes...	ORPHA:870
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Facial paralysis, Extramedullary hema...	OMIM:259710
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Failure to thrive, Hepatosplenomegaly, Cardiomegaly	ORPHA:99931
Orthostatic Hypotension 2	Anemia	OMIM:618182
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:99826
Bloom Syndrome	Esophageal neoplasm, Acute myeloid leukemia, Recurrent tonsillitis, Stomach cancer, Azoospermia, ...	ORPHA:125
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Weight loss	ORPHA:50251
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Kaposi's sarcoma, Abnormal lymphocyte...	OMIM:612783
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, ...	ORPHA:85450
Idiopathic Achalasia	Weight loss	ORPHA:930
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Autosomal Dominant Dopa-Responsive Dystonia	Bradykinesia, Babinski sign, Torticollis, Abnormality of extrapyramidal motor function, Gait atax...	ORPHA:98808
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Astigmatism, Renal insufficiency, Attenuation of retinal...	OMIM:615986
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C...	OMIM:615895
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Limb ataxia, Truncal ataxia, Persistence of hemoglobin F	OMIM:617101
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Spasticity, Tremor	OMIM:304700
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocytosis, Acute he...	ORPHA:139402
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopen...	OMIM:614520
Peutz-Jeghers Syndrome	Esophageal neoplasm, Abnormality of the gallbladder, Anemia, Pancreatic adenocarcinoma, Neoplasm ...	ORPHA:2869
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Anemia, Pancytopenia, Incoordination, Megaloblastic anemia, Failure to thrive, Thro...	OMIM:277380
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619183
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Pancreatitis, Failure to thrive, Thrombocytopenia, Leukopenia, Lethargy, Neutropenia	OMIM:251000
Autosomal Recessive Spastic Paraplegia Type 77	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Intention tremor, Myoclonus, We...	ORPHA:466722
Aredyld Syndrome	Cachexia, Refractory anemia with ringed sideroblasts, Hepatomegaly, Splenomegaly	ORPHA:1133
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circulating hepat...	ORPHA:50918
Waisman Syndrome	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Co...	OMIM:311510
Ménétrier Disease	Hypochromic microcytic anemia, Multiple gastric polyps, Weight loss, Stomach cancer	ORPHA:2494
Autosomal Dominant Progressive External Ophthalmoplegia	Bradykinesia, Hypertonia, Elevated circulating hepatic transaminase concentration, Resting tremor...	ORPHA:254892
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Dengue Fever	Hepatomegaly, Ascites, Thrombocytopenia, Leukopenia, Lethargy	ORPHA:99828
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa...	ORPHA:65682
Rothmund-Thomson Syndrome	Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Neoplasm of the skin, Mel...	ORPHA:2909
Manganese Poisoning	Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor function, Cogwheel rigidity, Postur...	ORPHA:306682
Tatton-Brown-Rahman Syndrome	Obesity, Neuroendocrine neoplasm, Myeloid leukemia	ORPHA:404443
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Aicardi-Goutieres Syndrome 7	Hypertonia, Hepatomegaly, Anemia, Limb hypertonia, Pancytopenia, Lower limb spasticity, Tetrapare...	OMIM:615846
Intermediate Osteopetrosis	Hepatosplenomegaly, Anemia	ORPHA:210110
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro...	OMIM:251880
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Neoplasm of the skin, Mel...	ORPHA:221008
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Stiff-Person Syndrome	Anemia, Exaggerated startle response, Myoclonic spasms, Frequent falls, Rigidity, Opisthotonus	OMIM:184850
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Portal hypertension, ...	ORPHA:465508
Fanconi Anemia, Complementation Group S	Ovarian neoplasm, Anemia, Failure to thrive, Ataxia, Breast carcinoma, Ovarian carcinoma	OMIM:617883
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Relapsing Fever	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Neutroph...	ORPHA:91547
Noonan Syndrome 6	Juvenile myelomonocytic leukemia	OMIM:613224
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Overweight, Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F	OMIM:619769
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Hepatome...	ORPHA:540
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid...	OMIM:609049
Osteopetrosis, Autosomal Recessive 5	Hypertonia, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Limb hypertonia, Pancytopenia, L...	OMIM:259720
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Neoplasm of the skin, Lym...	ORPHA:221016
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Myelodysplasia, Leukemia	OMIM:619951
Papillorenal Syndrome	Stage 5 chronic kidney disease, Macular degeneration, Chorioretinal atrophy, Lens luxation, Nephr...	OMIM:120330
Fanconi Anemia, Complementation Group N	Aplastic anemia, Acute myeloid leukemia, Neuroblastoma, Medulloblastoma, Nephroblastoma, Small fo...	OMIM:610832
Dyskeratosis Congenita, X-Linked	Cirrhosis, Anemia, Acute myeloid leukemia, Squamous cell carcinoma, Pancytopenia, Carcinoma, Orop...	OMIM:305000
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ...	OMIM:608203
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt...	ORPHA:508542
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hepatomegaly, Anemia, Spastic tetraparesis, Failure to thrive, Ataxia, ...	ORPHA:436271
Tumor Predisposition Syndrome 2	Ductal carcinoma in situ, Acute myeloid leukemia, Uveal melanoma, Juvenile type ovarian granulosa...	OMIM:619975
Vipoma	Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Normochromic anemia, Adrenocort...	ORPHA:97282
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of...	OMIM:127550
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Cystic renal dysplasia, Ectopic kidney, Optic disc pallor	OMIM:613730
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con...	OMIM:616433
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Apraxia, Acute promyelocytic l...	ORPHA:77293
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Parkinson Disease 8, Autosomal Dominant	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607060
Muckle-Wells Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:575
Lysosomal Acid Lipase Deficiency	Decreased liver function, Jaundice, Anemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:275761
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Systemic Lupus Erythematosus 17	Optic neuritis, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:301080
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Heteroc...	ORPHA:263479
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:79303
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Oculomotor apraxia, Cholestasis, Obesity, Splenomegaly, Hepatic fibrosis, Hepatic f...	OMIM:615630
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Speech apraxia, Obesity, Splenomegaly, Lymphopenia	OMIM:605309
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Anemia, Portal fibrosis, Hepatomegaly, Elevated circulating he...	ORPHA:264580
Tempi Syndrome	Hemangioma, Polycythemia, Ascites, Increased hematocrit	ORPHA:284227
Neuroferritinopathy	Bradykinesia, Babinski sign, Resting tremor, Chorea, Blepharospasm, Involuntary movements, Parkin...	ORPHA:157846
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Thrombocytosis, Lymphocytosis, Weight loss, Decreased p...	OMIM:301074
Brucellosis	Lung abscess, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Small for gestational age, Ch...	ORPHA:1304
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia	OMIM:300367
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Failure to thrive, Pituitary adenoma, Weight loss, Eosinoph...	ORPHA:199299
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia	OMIM:618394
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret...	OMIM:612109
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Ataxia, Splenomegaly, Sch...	OMIM:616084
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Elevated circulating hepatic transaminase concent...	ORPHA:1667
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Spinocerebellar Ataxia Type 8	Bradykinesia, Limb ataxia, Spastic dysarthria, Spasticity, Gait ataxia, Rigidity, Ataxia	ORPHA:98760
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Argininemia	Spastic gait, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Cholestasis, ...	OMIM:207800
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Spasticity, Frequent falls, Opisthotonus, Weight loss	ORPHA:216866
Solitary Rectal Ulcer Syndrome	Decreased body weight, Anemia	ORPHA:209964
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Slender build, Ataxia, Weight loss	OMIM:613662
Abcd Syndrome	Large for gestational age, Polycythemia	OMIM:600501
Somatostatinoma	Neoplasm of the pancreas, Hypochromic microcytic anemia, Intrahepatic cholestasis, Gallbladder dy...	ORPHA:97283
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Weight loss	ORPHA:324964
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Isolated Aniridia	Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia	ORPHA:250923
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Failure to thrive, Weight loss, Gait ataxia	OMIM:612075
Hereditary Late-Onset Parkinson Disease	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Fr...	ORPHA:411602
Familial Benign Copper Deficiency	Anemia	ORPHA:1551
Pyomyositis	Recurrent cutaneous abscess formation, Weight loss, Leukocytosis, Testicular teratoma	ORPHA:764
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Spasticity, Leukocytosis, Neutrophilia, Splenomegaly, ...	OMIM:620565
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	OMIM:615688
Galactokinase Deficiency	Hepatomegaly, Speech apraxia, Failure to thrive, Hepatosplenomegaly, Small for gestational age	ORPHA:79237
Parkinsonian-Pyramidal Syndrome	Bradykinesia, Babinski sign, Spasticity, Intention tremor, Rigidity, Parkinsonism, Myoclonus, Abn...	ORPHA:171695
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism, Rigidity	OMIM:614251
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Thrombocytopenia, Thymoma, Ap...	ORPHA:169105
Hemochromatosis, Type 5	Elevated hepatic iron concentration, Anemia	OMIM:615517
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga...	OMIM:157640
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Bazex Syndrome	Liposarcoma, Lung adenocarcinoma, Anemia, Neoplasm	ORPHA:166113
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Nephronophthisis 9	Anemia	OMIM:613824
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Decreased body weight, Leukocytosis, Th...	ORPHA:90051
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Isaacs Syndrome	Fasciculations, Weight loss	ORPHA:84142
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis, Thrombocytopenia, Leukocytosis	ORPHA:83601
Congenital Enterovirus Infection	Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hepatic failure, Leukopenia, T...	ORPHA:292
Congenital Factor Xiii Deficiency	Hepatic failure, Myeloid leukemia	ORPHA:331
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anemia, Gastrointestinal carcinoma, Hamartomatous polyposis	OMIM:175500
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Parkinson Disease 14, Autosomal Recessive	Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Spasticity, Tr...	OMIM:612953
Mosaic Variegated Aneuploidy Syndrome 1	Tetraplegia, Embryonal rhabdomyosarcoma, Nephroblastoma, Small for gestational age, Leukemia	OMIM:257300
Congenital Primary Aphakia	Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se...	ORPHA:83461
Lead Poisoning	Abnormal T cell morphology, Anemia, Poor gross motor coordination, Poor fine motor coordination, ...	ORPHA:330015
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Failure to thrive, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis,...	OMIM:615934
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Leukopenia	OMIM:613845
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, C...	OMIM:614576
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Megaloblastic anemia, Neurogenic bladder, Sideroblastic anemia, Hydro...	OMIM:222300
Caroli Syndrome	Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatitis, Hepatome...	ORPHA:480520
Enhanced S-Cone Syndrome	Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy	OMIM:268100
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Rett Syndrome	Bradykinesia, Failure to thrive, Limb apraxia, Cholecystitis	ORPHA:778
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Weight loss, Abnormal peritoneum morphology	ORPHA:26790
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph...	ORPHA:169154
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Failure t...	OMIM:612541
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Spasticity, Cataplexy, Pr...	OMIM:607625
Pediatric-Onset Graves Disease	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperkinetic mov...	ORPHA:525731
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Hepatomegaly, Failure to thrive, Ataxia, Splenomegaly, Spastic tetraplegia	OMIM:230600
Isolated Succinate-Coq Reductase Deficiency	Babinski sign, Spasticity, Spastic tetraparesis, Frequent falls, Lower limb hypertonia, Ataxia, W...	ORPHA:3208
Multiple Myeloma	Lymphadenopathy, Anemia, Splenomegaly, Weight loss	ORPHA:29073
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Perry Syndrome	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss	ORPHA:178509
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Immunodeficiency 22	Anemia, Ascites, Failure to thrive, Decreased proportion of CD4-positive helper T cells, Thromboc...	OMIM:615758
Loeffler Endocarditis	Eosinophilia, Weight loss, Left ventricular hypertrophy	ORPHA:75566
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Hepatomegaly, Anemia, Truncal ataxia, Failure to thrive, Ataxia, Increa...	OMIM:220110
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Neurodegeneration With Brain Iron Accumulation 2B	Bradykinesia, Babinski sign, Hypertonia, Chorea, Spasticity, Dysdiadochokinesis, Gait ataxia, Int...	OMIM:610217
Pneumocystosis	Abnormal neutrophil count, Weight loss, Neoplasm	ORPHA:723
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Tremor, Failure to thrive, Ataxia, Splenomegaly, Lethargy	OMIM:201100
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Hydatidiform Mole	Anemia	ORPHA:99927
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Hepatomegaly, Anemia, Splenomegaly	OMIM:239200
Mirage Syndrome	Anemia, Paraplegia, Decreased body weight, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymp...	OMIM:617053
Familial Colorectal Cancer Type X	Neoplasm of the thyroid gland, Basal cell carcinoma, Neoplasm of the pancreas, Hypertonia, Neopla...	ORPHA:440437
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia, Weight loss	ORPHA:85408
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Decreased body weight, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splen...	OMIM:608013
Diamond-Blackfan Anemia 10	Reticulocytopenia, Steroid-responsive anemia, Anemia, Macrocytic anemia	OMIM:613309
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Failure to thrive, Thrombocytopenia, Ex...	OMIM:617941
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Elevated circulating hepatic transaminas...	ORPHA:79240
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy, Neoplasm of the breast, Neoplasm of the respiratory system, We...	ORPHA:2221
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Al Amyloidosis	Hepatomegaly, Anemia, Howell-Jolly bodies, Weight loss, Abnormality of the liver	ORPHA:85443
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormality of extrapyrami...	OMIM:225750
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Thymic Carcinoma	Diaphragmatic paralysis, Mediastinal lymphadenopathy, Neoplasm of the thymus, Weight loss	ORPHA:99868
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Klippel-Trénaunay Syndrome	Hemangioma, Ascites, Hepatomegaly, Microcytic anemia	ORPHA:90308
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Stage 5 chronic kid...	OMIM:268315
Primary Progressive Freezing Gait	Bradykinesia, Babinski sign, Frequent falls, Clonus, Rigidity, Postural tremor	ORPHA:75567
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D...	OMIM:619846
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Anemia, Erythroid hypoplasia	OMIM:618165
Gastrointestinal Stromal Tumor	Esophageal neoplasm, Neoplasm of the stomach, Anemia, Neoplasm of the rectum, Neoplasm of the sma...	ORPHA:44890
Glucagonoma	Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Normochromic anemia, Adrenocort...	ORPHA:97280
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas...	OMIM:106210
Alexander Disease Type I	Cachexia, Spasticity, Failure to thrive, Ataxia, Abnormal pyramidal sign, Palatal tremor	ORPHA:363717
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ...	OMIM:618986
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Anaplastic thyroid carcinoma, Vocal cord paralysis, Neoplasm of the lung, Neopla...	ORPHA:142
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia	OMIM:301110
Vici Syndrome	Abnormal posturing, T lymphocytopenia, Left ventricular hypertrophy, Failure to thrive, Decreased...	OMIM:242840
Chronic Granulomatous Disease	Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Oculomotor apra...	OMIM:216360
Pseudo-Torch Syndrome 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascites, Thrombocytopenia,...	OMIM:617397
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, T-cell lymphoma, Impaired lymphocyte transformation with phytohemagg...	OMIM:243150
Gm1 Gangliosidosis	Abnormality of extrapyramidal motor function, Decerebrate rigidity, Spasticity, Tremor, Failure t...	ORPHA:354
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Splenomegaly, Failure to thrive in infancy, Abscess	OMIM:612852
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Parkinson Disease, Late-Onset	Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:168600
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C...	ORPHA:171
Nephroblastoma	Lymphadenopathy, Neoplasm of the lung, Weight loss, Neoplasm, Nephroblastoma, Neoplasm of the liver	ORPHA:654
Igg4-Related Aortitis	Hypereosinophilia, Weight loss	ORPHA:449400
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Neoplasm of the lung, Ne...	ORPHA:1332
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Scheie Syndrome	Spastic paraparesis, Cerebral palsy, Hepatomegaly, Splenomegaly	ORPHA:93474
Oculopharyngodistal Myopathy	Paraplegia, Vocal cord paresis, Weight loss	ORPHA:98897
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Elevated circulating hepatic transaminase conce...	OMIM:276700
Stevens-Johnson Syndrome	Elevated circulating hepatic transaminase concentration, Anemia, Pancreatitis, Thrombocytopenia, ...	ORPHA:36426
Progressive Supranuclear Palsy	Bradykinesia, Rigidity, Tremor, Blepharospasm	ORPHA:683
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Klatskin Tumor	Hepatomegaly, Jaundice, Lymphadenopathy, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Necrotizing Enterocolitis	Ascites, Leukocytosis, Thrombocytopenia, Peritonitis, Small for gestational age, Lethargy, Neutro...	ORPHA:391673
Juvenile Sialidosis Type 2	Hepatomegaly, Lower limb spasticity, Spasticity, Visceromegaly, Hepatosplenomegaly, Ataxia, Myocl...	ORPHA:93399
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria...	OMIM:619649
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Babinski sign, Hepatomegaly, Truncal ataxia, Spasticity, Myoclonus, Ascites, Lower limb hypertoni...	OMIM:301072
Lynch Syndrome	Neoplasm of the stomach, Neoplasm of the pancreas, Intestinal polyposis, Neoplasm of the skin, Ma...	ORPHA:144
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Bone marrow hypocellular...	OMIM:617303
Diamond-Blackfan Anemia 1	Basal cell carcinoma, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increase...	OMIM:105650
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612923
Retinoblastoma	Retinoblastoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Pinealoma, Leukemia	OMIM:180200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612926
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Lymphadenopathy, Lymphoma, Ascites, Cerebral palsy, Hemiplegia/hemiparesis, Ataxia,...	ORPHA:36412
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia, Failur...	OMIM:617099
Carney Triad	Anemia, Leiomyosarcoma, Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Phe...	ORPHA:139411
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neo...	ORPHA:97289
Young-Onset Parkinson Disease	Bradykinesia, Rigidity, Tremor, Spasticity	ORPHA:2828
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Pulmonary capillary hemangiomatosis, Neoplasm of the pancreas, Spinal hemangi...	OMIM:193300
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Failure to thrive, Thrombocytopenia, Leukop...	OMIM:222700
Anal Fistula	Leukocytosis	ORPHA:228113
Parkinson Disease 1, Autosomal Dominant	Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Myoclonus	OMIM:168601
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612924
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Pancreatitis, Anemia, Thrombocytopenia, ...	ORPHA:537
Diencephalic Syndrome	Cachexia, Neoplasm of the nervous system, Decreased body weight	ORPHA:1672
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Spasticity, Hepatomegaly, Microcytic anemia, Neutropenia	OMIM:251900
Chronic Hiccup	Weight loss	ORPHA:396
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Failure to thrive, Juvenile myelomonocytic leukemia, Hepatosplenomegaly, Splenomegaly	OMIM:613563
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Anemia, Hepatomegaly, Increased B cell count, Cholestasis, Leukocytosis, Increased T ce...	OMIM:620376
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Ro...	OMIM:300578
Cryptococcosis	Cirrhosis, Mediastinal lymphadenopathy, Peritonitis, Neoplasm, Lymphoid leukemia	ORPHA:1546
Idiopathic Panuveitis	Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju...	ORPHA:280921
Rat-Bite Fever	Abdominal aseptic abscess, Pancreatitis, Anemia, Lymphadenitis, Weight loss	ORPHA:31205
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Limb ataxia, Hypertonia, Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Oculomotor apraxia, C...	ORPHA:2072
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612925
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Hereditary Central Diabetes Insipidus	Lethargy, Weight loss	ORPHA:30925
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Spasticity, Leukocytosis, Failure to thrive, Thrombocytosis, Hypochromic anemia	OMIM:618213
Scrub Typhus	Lymphadenopathy, Tremor, Splenomegaly, Lethargy	ORPHA:83317
Adams-Oliver Syndrome 6	Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Anemia, Spastic tetraparesis, Cerebral palsy, Paraparesis, Failure to thrive, Spastic ataxia	OMIM:620358
Solitary Fibrous Tumor	Pelvic mass, Genital neoplasm, Abnormal peritoneum morphology, Neoplasm of the nervous system, Ne...	ORPHA:2126
Legius Syndrome	Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Desmoid tumors, Nephro...	ORPHA:137605
Retinoblastoma	Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Pine...	ORPHA:790
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor...	ORPHA:199351
Amyloidosis, Finnish Type	Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis, Cataract, Stage 5 ...	OMIM:105120
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic a...	ORPHA:809
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:85414
Insulin-Resistance Syndrome Type B	Increased body weight, Abnormality of body weight, Lymphoma, Biliary cirrhosis, Multiple myeloma,...	ORPHA:2298
Dubowitz Syndrome	Anemia, Lymphoma, Acute lymphoblastic leukemia, Thrombocytopenia, Neoplasm, Abnormality of neutro...	ORPHA:235
Developmental And Epileptic Encephalopathy 50	Anisopoikilocytosis, Anemia, Failure to thrive, Acanthocytosis, Schistocytosis	OMIM:616457
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia, Anemia	OMIM:618882
Anterior Cutaneous Nerve Entrapment Syndrome	Decreased body weight, Leukocytosis	ORPHA:51890
Hereditary Chronic Pancreatitis	Jaundice, Leukocytosis, Pancreatic calcification, Recurrent pancreatitis	ORPHA:676
Fragile X-Associated Tremor/Ataxia Syndrome	Bradykinesia, Intention tremor, Gait ataxia, Rigidity, Ataxia, Parkinsonism, Dysmetria	ORPHA:93256
Central Diabetes Insipidus	Failure to thrive, Lethargy, Weight loss	ORPHA:178029
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Tremor, Rigidity, Ataxia, Parkinsonism	OMIM:146500
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly, Lymph...	ORPHA:549
Sandhoff Disease	Hepatomegaly, Fasciculations, Spasticity, Upper motor neuron dysfunction, Exaggerated startle res...	OMIM:268800
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis	OMIM:266140
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia, Rectal polyposis, Small intestinal polyposis, Adenomatous colonic polyposis, Duodenal pol...	ORPHA:329971
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Erythrokeratodermia Variabilis	Neoplasm of the skin, Weight loss	ORPHA:317
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Leukocytosis, Failure to thrive, Splenomegaly, Hypochromic anemia	ORPHA:289157
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Enlarged platelet...	OMIM:608233
Juvenile Amyotrophic Lateral Sclerosis	Hypertonia, Lower limb spasticity, Retrocollis, Chorea, Cachexia, Clonus, Head titubation, Upper ...	ORPHA:300605
Gm1-Gangliosidosis, Type I	Vacuolated lymphocytes, Hypertonia, Hepatomegaly, Splenomegaly	OMIM:230500
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Lathosterolosis	Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Failure to thrive, Thrombocytopenia,...	ORPHA:46059
Cryoglobulinemic Vasculitis	Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Abnormality of the liver	ORPHA:91138
Attrv30M Amyloidosis	Cardiomegaly, Weight loss	ORPHA:85447
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Senior-Boichis Syndrome	Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites,...	ORPHA:84081
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Babinski sign, Hypertonia, Torticollis, Tremor, Blepharospasm	OMIM:128100
Psoriasis 14, Pustular	Cholangitis, Neutrophilia, Leukocytosis	OMIM:614204
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia...	OMIM:613990
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ren...	OMIM:260920
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Anemia, Failure to thrive, Colon cancer, Duodenal adenocarcinoma, Multip...	OMIM:174900
Wilson Disease	Portal fibrosis, Parkinsonism with favorable response to dopaminergic medication, Ascites, Rigidi...	OMIM:277900
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope...	OMIM:619381
Erdheim-Chester Disease	Retroperitoneal fibrosis, Anemia, Ataxia, Weight loss	ORPHA:35687
Pachydermoperiostosis	Hepatomegaly, Anemia, Neoplasm of the skin, Neoplasm of the lung, Cerebral palsy, Splenomegaly	ORPHA:2796
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hepatic steatosis, Jaundice, Hepatomegaly, Cholestasis, Ascites, Ele...	OMIM:619573
Gaucher Disease Type 3	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Ataxia	ORPHA:77261
Camurati-Engelmann Disease	Hepatomegaly, Anemia, Cachexia, Slender build, Ataxia, Leukopenia, Splenomegaly	ORPHA:1328
Hereditary Mixed Polyposis Syndrome	Thyroid carcinoma, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ...	ORPHA:157794
Systemic Lupus Erythematosus	Lymphadenopathy, Chorea, Thrombocytopenia, Leukopenia, Weight loss, Hemolytic anemia	ORPHA:536
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Malignant Peritoneal Mesothelioma	Weight loss, Ascites, Peritonitis, Neoplasm	ORPHA:168811
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Anemia, Leukocytosis, Lower limb hypertonia, Failure to thrive, Neutrophilia, Ataxi...	ORPHA:99843
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Chorioretinal coloboma, Lymphopenia	ORPHA:1116
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal granulocyte morph...	ORPHA:98907
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Abnormality of...	ORPHA:84064
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Intestinal polyposis, Stomach cancer, Ascites, Vaginal neoplasm, Acute lymphobl...	ORPHA:1052
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Involuntary movements, Rigidity, Parkinsonism, Eyelid apraxia	OMIM:615530
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Nephritis, Proteinuria, Cata...	OMIM:203780
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Anemia, Spasticity, Elevated circulating alanine aminotransferase concentration, My...	OMIM:246450
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Oculomotor apra...	ORPHA:1454
Hypercalcemia, Infantile, 1	Failure to thrive, Lethargy, Weight loss	OMIM:143880
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Blepharospasm, Upper motor neuron dysfunction, Eyelid ap...	ORPHA:306674
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Juvenile Xanthogranuloma	Myeloproliferative disorder	ORPHA:158000
Shigellosis	Splenic abscess, Cholestasis, Leukocytosis, Thrombocytopenia, Peritonitis, Microangiopathic hemol...	ORPHA:810
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Anemia, Congenital Dyserythropoietic, Type Iiia	Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia, Jaundice	OMIM:105600
Riboflavin Transporter Deficiency	Cachexia, Tremor, Ataxia, Myoclonus	ORPHA:97229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s...	OMIM:614643
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hepatomegaly, Abnormality of extrapyramidal motor function, Megaloblastic anemia, Tremor, Failure...	OMIM:277400
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Paraganglioma of head and neck, Weight loss, Paraganglioma	ORPHA:94080
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Splenomegaly	OMIM:612301
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Cholestasis, Increased mean platelet volume, Failure to thrive...	OMIM:222470
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uropo...	OMIM:263700
Nephronophthisis 11	Hepatic fibrosis, Anemia	OMIM:613550
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bilateral re...	OMIM:243605
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss	ORPHA:309031
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Cavernous hemangioma, Hypers...	OMIM:616028
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Spastic paraplegia, Anemia, Abnormal hemoglobin	ORPHA:847
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Hypertonia, Spasticity, Lymphoma, Rigidity, Leukemia	ORPHA:2526
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Astigmatism, Anemia, Pancytopenia, Focal segmental glomerulosclerosis...	OMIM:242900
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Anemia, Vesicoureteral reflux, Corneal scarring, Renal cyst, Renal hypoplas...	OMIM:618460
Hirschsprung Disease	Neoplasm of the thyroid gland, Intestinal polyposis, Weight loss, Failure to thrive in infancy	ORPHA:388
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Granuloma, ...	OMIM:306400
Christianson Syndrome	Truncal ataxia, Cachexia, Gait ataxia	ORPHA:85278
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Neoplasm of the nervous system, Intermittent jaundice, Chronic noninfe...	ORPHA:100086
8P11.2 Deletion Syndrome	Spherocytosis, Splenomegaly, Hemolytic anemia, Azoospermia	ORPHA:251066
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Failure to thrive, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Grfoma	Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Adrenocortical ...	ORPHA:97261
Peritoneal Cystic Mesothelioma	Weight loss, Peritonitis, Neoplasm	ORPHA:168816
Dubowitz Syndrome	Aplastic anemia, Acute lymphoblastic leukemia, Lymphoma, Neuroblastoma	OMIM:223370
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Juvenile Polyposis Of Infancy	Anemia, Cachexia, Hamartomatous polyposis, Hemangioma, Hemangioblastoma, Adenomatous colonic poly...	ORPHA:79076
Moynahan Syndrome	Cachexia	ORPHA:2574
Nephronophthisis 4	Anemia	OMIM:606966
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Hemiplegia/hemiparesis, Weight loss	ORPHA:183
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Schinzel-Giedion Syndrome	Annular pancreas, Hypertonia, Spasticity, Teratoma, Vocal cord paralysis, Ependymoma, Hepatoblast...	ORPHA:798
Microphthalmia, Syndromic 5	Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract, Micropenis	OMIM:610125
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:280000
Rubinstein-Taybi Syndrome 1	Hepatic hemangioma, Accessory spleen, Capillary hemangioma, Poor coordination, Incoordination, Fa...	OMIM:180849
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Cachexia, Hypertonia, Failure to thrive in infancy, Spasticity	OMIM:616801
Ellis Van Creveld Syndrome	Acute leukemia, Failure to thrive	ORPHA:289
Leukocyte Adhesion Deficiency	Perianal abscess, Acute myeloid leukemia, Recurrent tonsillitis, Leukocytosis, Abnormality of neu...	ORPHA:2968
Noonan Syndrome	Abnormality of the lymphatic system, Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormality ...	ORPHA:648
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Astigmatism, Anemia, Unilateral renal agenesis, Pancytopenia, Vesicoureteral reflux, Retinal colo...	OMIM:620654
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
Knobloch Syndrome	Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration, Vitreoretinopathy, ...	ORPHA:1571
Biotinidase Deficiency	Hepatomegaly, Ataxia, Splenomegaly, Lethargy	OMIM:253260
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Cerebellar glioma, Multiple mucosal neuromas, Pheochromocytoma, Glomus jugular ...	ORPHA:97685
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Anemia, Hepatomegaly, Lymphoma, Bone marrow hypocellularity,...	ORPHA:1775
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Abnormality of the pancreas, Lymphopenia	ORPHA:935
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Peritonitis	OMIM:249100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
Noonan Syndrome 2	Acute lymphoblastic leukemia, Leukemia	OMIM:605275
Cogan Syndrome	Thrombocytosis, Anemia, Leukocytosis	ORPHA:1467
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Weight loss, Hepa...	ORPHA:97287
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Spasticity, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:301040
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c...	ORPHA:79098
Acute Radiation Syndrome	Cataract, Thrombocytopenia, Granulocytopenia, Lymphopenia	ORPHA:454831
Gaucher Disease	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Oculomotor apraxia, Abnormality of...	ORPHA:355
Graves Disease	Abnormal abdomen morphology, Weight loss	OMIM:275000
Microsporidiosis	Pancreatitis, Cholangitis, Cachexia, Lymphadenitis, Biliary tract abnormality, Decreased proporti...	ORPHA:2552
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Ppoma	Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Adrenocortical ...	ORPHA:97278
Urachal Cyst	Leukocytosis, Abdominal mass, Peritonitis, Neoplasm, Abscess	ORPHA:488
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Splenomegaly, Weight loss, Generalized l...	OMIM:181000
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c...	ORPHA:760
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss, Cholelithiasis, Recurrent tonsillitis	ORPHA:171876
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy, Weight loss	ORPHA:411703
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232220
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati...	OMIM:619525
Niemann-Pick Disease Type C	Chorea, Ascites, Ataxia, Splenomegaly, Myoclonus, Clumsiness, Jaundice, Tremor, Cataplexy, Hepato...	ORPHA:646
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Fasc...	OMIM:610717
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Anemia, Pancytopenia, Bone marrow hypocellularity, Elliptocytosis, Enlarged tonsils...	ORPHA:2785
Addison Disease	Normocytic anemia, Failure to thrive, Weight loss, Thymoma, Thiamine-responsive megaloblastic anemia	ORPHA:85138
Acute Adrenal Insufficiency	Failure to thrive, Normocytic anemia, Weight loss	ORPHA:95409
Chronic Thromboembolic Pulmonary Hypertension	Obesity, Myeloproliferative disorder, Neoplasm	ORPHA:70591
Lysinuric Protein Intolerance	Cirrhosis, Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Elevated circulating hepatic tra...	ORPHA:470
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Abnormal intrahepatic bile duct morphology, Cholangitis, Periportal fi...	ORPHA:731
Mcdonough Syndrome	Cachexia	ORPHA:2471
Hardikar Syndrome	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholangitis, Elevated circulating he...	OMIM:301068
Supranuclear Palsy, Progressive, 2	Bradykinesia, Retrocollis, Rigidity, Parkinsonism, Eyelid apraxia, Postural tremor	OMIM:609454
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholesta...	ORPHA:247598
Lymphatic Malformation 7	Anemia, Ascites	OMIM:617300
Atelis Syndrome 2	Anemia, Remnants of the hyaloid vascular system, Thrombocytopenia, Developmental cataract, Vitreo...	OMIM:620185
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Azoospermia, Pancreatic hypoplasia, Histiocytosis, Hepatosplenomeg...	OMIM:602782
Polymyositis	Hepatomegaly, Weight loss, Breast carcinoma	ORPHA:732
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Hypertonia	ORPHA:1389
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia	OMIM:619767
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Failure to thrive, Weight loss	ORPHA:79128
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor, Weight loss	OMIM:613239
Granulomatosis With Polyangiitis	Weight loss, Granulomatosis	OMIM:608710
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Familial Tumoral Calcinosis	Neoplasm of the skin, Hepatomegaly, Splenomegaly	ORPHA:53715
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Pheochromocytoma, Increased body weight, Pulmonary carcinoid tumor, Lymp...	ORPHA:99889
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Supranuclear Palsy, Progressive, 1	Bradykinesia, Retrocollis, Tremor, Rigidity, Parkinsonism, Eyelid apraxia	OMIM:601104
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss	ORPHA:330001
Hermansky-Pudlak Syndrome	Basal cell carcinoma, Squamous cell carcinoma of the skin, Weight loss, Neutropenia	ORPHA:79430
Chime Syndrome	Acute leukemia	ORPHA:3474
Liposarcoma	Sarcoma, Weight loss	ORPHA:69078
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Bile...	OMIM:619662
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Weight loss	ORPHA:49041
Noonan Syndrome 3	Juvenile myelomonocytic leukemia	OMIM:609942
Primary Hyperoxaluria Type 1	Failure to thrive, Anemia	ORPHA:93598
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Sporadic Pheochromocytoma/Secreting Paraganglioma	Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Paraganglioma of head and neck, Paragangl...	ORPHA:276621
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Ascites, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia	OMIM:200995
Poland Syndrome	Acute leukemia, Neoplasm of the breast, Abnormality of the liver, Retinal hamartoma	ORPHA:2911
Pelizaeus-Merzbacher Disease	Cachexia, Spasticity, Ataxia, Failure to thrive in infancy, Choreoathetosis	ORPHA:702
Fanconi Anemia	Anemia, Azoospermia, Thrombocytopenia, Leukopenia, Weight loss, Neoplasm, Abnormality of the live...	ORPHA:84
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Anemia, Pancreatitis, Enlarged kidney, Increased hepatic gl...	ORPHA:79259
Down Syndrome	Myeloproliferative disorder, Acute megakaryocytic leukemia	OMIM:190685
Flynn-Aird Syndrome	Cachexia, Ataxia	ORPHA:2047
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Conjunctival hamartoma	ORPHA:312
Renpenning Syndrome	Cachexia	ORPHA:3242
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
Neuropathy, Congenital Hypomyelinating, 3	Babinski sign, Spasticity, Cachexia	OMIM:618186
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis, Weight loss	OMIM:188580
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Tremor, Splenomegaly	ORPHA:667
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Retinal capil...	ORPHA:29072
Secondary Short Bowel Syndrome	Failure to thrive, Cholestasis, Weight loss	ORPHA:95427
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Pancreatitis, Lymphadenopathy, Sclerosing cholangitis,...	ORPHA:449395
Oromandibular Dystonia	Hyperkinetic movements, Blepharospasm, Torticollis, Weight loss	ORPHA:93958
Arima Syndrome	Cirrhosis, Hepatomegaly, Anemia, Ataxia, Hepatic fibrosis, Hepatic steatosis	OMIM:243910
Infantile Krabbe Disease	Lower limb spasticity, Ankle clonus, Decerebrate rigidity, Spasticity, Cachexia, Failure to thriv...	ORPHA:206436
Primary Triglyceride Deposit Cardiomyovasculopathy	Vacuolated lymphocytes, Hepatomegaly, Pancreatitis, Splenomegaly	ORPHA:565612
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Mucolipidosis Type Ii	Hepatosplenomegaly, Splenomegaly, Weight loss, Left ventricular hypertrophy	ORPHA:576
Focal Myositis	Weight loss	ORPHA:48918
Norrie Disease	Optic atrophy, Abnormal chorioretinal morphology, Abnormal vitreous humor morphology, Aplasia/Hyp...	ORPHA:649
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Ataxia	ORPHA:1933
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
X-Linked Creatine Transporter Deficiency	Hypertonia, Chorea, Cachexia, Athetosis, Ataxia	ORPHA:52503
Beckwith-Wiedemann Syndrome	Large for gestational age, Rhabdomyosarcoma, Hepatomegaly, Enlarged kidney, Leiomyosarcoma, Abnor...	ORPHA:116
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Spastic tetraplegia, Cachexia, Severe failure to thrive	ORPHA:371364
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Noonan Syndrome 1	Neurofibrosarcoma, Juvenile myelomonocytic leukemia, Failure to thrive in infancy, Amegakaryocyti...	OMIM:163950
Cap Polyposis	Weight loss, Colorectal polyposis	ORPHA:160148
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Biliary hyperpla...	OMIM:619991
Hyperlipoproteinemia, Type I	Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly	OMIM:238600
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Weight loss	ORPHA:92050
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys...	ORPHA:91500
Giant Cell Arteritis	Mediastinal lymphadenopathy, Ataxia, Weight loss, Hepatic failure	ORPHA:397
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy, Weight loss	ORPHA:79078
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Fatal Familial Insomnia	Ataxia, Weight loss, Myoclonus	OMIM:600072
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone cell adenoma, Pituitary cort...	ORPHA:652
Behçet Disease	Pancreatitis, Lymphadenopathy, Hemiparesis, Ataxia, Splenomegaly, Weight loss, Abnormal pyramidal...	ORPHA:117
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati...	OMIM:269700
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Spasticity, Ataxia, Splenomegaly, Abnormal pyramidal sign	ORPHA:163746
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Hepatomegaly, Splenomegaly	OMIM:612132
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Rett Syndrome	Cachexia, Truncal ataxia, Spasticity, Gait apraxia, Gait ataxia	OMIM:312750
African Trypanosomiasis	Jaundice, Hepatomegaly, Lymphadenopathy, Fasciculations, Tremor, Involuntary movements, Hemipares...	ORPHA:3385
Familial Glucocorticoid Deficiency	Azoospermia, Tetraplegia, Failure to thrive, Leydig cell neoplasia, Weight loss, Testicular adren...	ORPHA:361
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Anemia, Hamartomatous polyposis, Juvenile gastrointestinal po...	OMIM:175050
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Posterior subcapsular cataract, Abnormal optic nerve morphology, Remnants of t...	ORPHA:637
Unilateral Polymicrogyria	Abnormal posturing, Poor fine motor coordination, Involuntary movements, Hemiparesis, Myoclonus, ...	ORPHA:268943
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Weight loss, Pancreatic ...	ORPHA:103918
Zollinger-Ellison Syndrome	Glucagonoma, Jaundice, Lipoma, Adrenocortical adenoma, Pituitary growth hormone cell adenoma, Pit...	ORPHA:913
Glossopharyngeal Neuralgia	Vocal cord paralysis, Weight loss, Schwannoma, Neoplasm	ORPHA:221098
Osteosarcoma	Weight loss	ORPHA:668
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal neoplasm, Fibroma, Diffuse leiomyomatosis, Vaginal neoplasm, Failure to thrive, Trache...	ORPHA:1018
Granulomatosis With Polyangiitis	Hemiplegia, Pancreatitis, Weight loss, Granulomatosis	ORPHA:900
Amyotrophic Lateral Sclerosis	Babinski sign, Fasciculations, Cachexia, Spasticity, Paralysis	ORPHA:803
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Failure to thrive, Hepatosplenomegaly, ...	OMIM:219700
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Tetrasomy 12P	Cachexia	ORPHA:884
Cystinosis, Nephropathic	Hepatomegaly, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Weight loss, Fa...	OMIM:219800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Babinski sign, Frequent falls, Gait ataxia, Ataxia, Weight loss, Myoclonus, Dysmetria, Progressiv...	OMIM:607459
Polyarteritis Nodosa	Weight loss	ORPHA:767
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification, Weight loss	ORPHA:677
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Bannayan-Riley-Ruvalcaba Syndrome	Thyroid carcinoma, Intestinal polyposis, Lipoma, Capillary hemangioma, Cachexia, Neoplasm of the ...	ORPHA:109
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti...	OMIM:600802
Alkaptonuria	Black pigment gallstones, Hemolytic anemia, Methemoglobinemia	ORPHA:56
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Parathyroid Carcinoma	Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Pancreatitis, Lipoma, Testicular neoplasm, Ren...	ORPHA:143
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphopenia	OMIM:617827
Bullous Pemphigoid	Weight loss	ORPHA:703
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma, Cyclic neutropenia	OMIM:232240
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Abnormal eosinophil morphology, Lymphoma...	ORPHA:221
Xfe Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Cachexia, Ascites, Failure to thrive, Po...	OMIM:610965
Cockayne Syndrome	Hypertonia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Limb hypertoni...	ORPHA:191
Adrenocortical Carcinoma	Increased body weight, Lung adenocarcinoma, Weight loss, Adrenocortical carcinoma	ORPHA:1501
Yao Syndrome	Weight loss	OMIM:617321
Goodpasture Syndrome	Anemia, Weight loss	OMIM:233450
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Basal cell carcinoma, Cachexia, Spasticity, Squamous cell carcinoma of the skin, Melanoma, Ataxia	ORPHA:220295
Riddle Syndrome	Poor hand-eye coordination, Ataxia, Weight loss, Clumsiness, Generalized lymphadenopathy	ORPHA:420741
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Pancreatic hypoplasia, Reduced pancreatic beta cells, Failure to thrive, Ataxia, Weight ...	ORPHA:99885
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,...	ORPHA:35078
Short Syndrome	Weight loss	ORPHA:3163
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Thyrotoxic Periodic Paralysis	Respiratory paralysis, Tetraplegia, Tremor, Periodic hypokalemic paresis, Obesity, Weight loss, P...	ORPHA:79102
Tropical Endomyocardial Fibrosis	Hepatomegaly, Cachexia, Ascites, Splenomegaly, Cardiomegaly, Eosinophilia	ORPHA:75565
19Q13.11 Microdeletion Syndrome	Cachexia, Failure to thrive	ORPHA:217346
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Obesity, Tremor	ORPHA:85293
Neuroocular Syndrome	Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Len...	OMIM:619539
Sotos Syndrome	Small cell lung carcinoma, Poor coordination, Tremor, Neuroblastoma, Astrocytoma, Acute lymphobla...	ORPHA:821
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hand tremor, Small for gestational age, Weight loss	ORPHA:424
Rheumatoid Arthritis	Weight loss	OMIM:180300
Carney-Stratakis Syndrome	Weight loss, Paraganglioma, Gastrointestinal stroma tumor	ORPHA:97286
Silver-Russell Syndrome	Cachexia, Obesity, Failure to thrive in infancy	ORPHA:813
Malignant Atrophic Papulosis	Weight loss, Peritonitis	ORPHA:679
Chronic Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Ascites, Weight loss, Pancytopenia	ORPHA:99921
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Failure to thrive, Lymphangioma, Acute myelomonocytic leukemia, Multiple enchondromatosis, Cavern...	ORPHA:99646
Nocardiosis	Liver abscess, Lymphadenitis, Peritonitis, Weight loss, Cutaneous abscess, Brain abscess	ORPHA:31204
Proteus Syndrome	Enlarged kidney, Lipoma, Cachexia, Lymphangioma, Splenomegaly, Neoplasm, Thymus hyperplasia, Hama...	ORPHA:744
Microphthalmia, Syndromic 2	Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmen...	OMIM:300166
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Slender build, Weight loss	OMIM:603041
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Weight loss	ORPHA:60025
Schwartz-Jampel Syndrome	Hypertonia, Cachexia, Blepharospasm, Decreased body weight, Odontogenic neoplasm	ORPHA:800
Oculopharyngodistal Myopathy 1	Tremor, Ataxia, Weight loss	OMIM:164310
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Trisomy 18	Cachexia, Hypertonia	ORPHA:3380
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Remnants of the hyaloid vascular system	OMIM:603671
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Tremor, Weight loss	ORPHA:91347
Postinfectious Vasculitis	Weight loss, Viral hepatitis	ORPHA:48435
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Holoprosencephaly 2	Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Seckel Syndrome	Cachexia	ORPHA:808
Reactive Arthritis	Weight loss	ORPHA:29207
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Testicular adrenal rest tumor, Weight loss	ORPHA:90794
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Stickler Syndrome	Hemiplegia/hemiparesis, Cachexia, Slender build	ORPHA:828
Marfan Syndrome	Cachexia, Slender build	ORPHA:558
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Chordc1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Chordc1.

No publications found that use IMPC mice or data for Chordc1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Chordc1^{tm199137(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Chordc1^em1(IMPC)Mbp	Exon Deletion	Mice
Chordc1^{tm199137(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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