Gene: Cfap161 MGI:1922806

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Gene Summary

cilia and flagella associated protein 161

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal mouth morphology Cfap161em1(IMPC)Ccpcz HOM Early adult 6.62×10-05
enlarged spleen Cfap161em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thyroid gland Cfap161em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Cfap161em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal mammary gland morphology Cfap161em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thyroid gland morphology Cfap161em1(IMPC)Ccpcz HOM Early adult 0.00

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Viewing: all phenotypes

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.


XRay Images Hind Leg and Hip

32 Images


XRay Images Skull Lateral Orientation

16 Images


XRay Images Forepaw

16 Images


XRay Images Whole Body Dorso Ventral

32 Images


XRay Images Skull Dorso Ventral Orientation

16 Images


XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Cfap161 mutations

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

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

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

The table below shows human diseases predicted to be associated to Cfap161 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Blepharochalasis And Double Lip
Abnormality of the mouth, Goiter, Duplication of the upper lip OMIM:109900
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma OMIM:274700
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide OMIM:274500
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 OMIM:188570
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Goiter, Chronic noninfectious lymphadenopathy, Follicular thyroid ca... ORPHA:319487
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinoma, Abnor... ORPHA:97290
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter OMIM:274300
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Goiter, Thyroid nodule, Multinodular goiter OMIM:180295
Ascher Syndrome
High palate, Goiter, Abnormality of upper lip, Hypothyroidism ORPHA:1253
Thyroid Dyshormonogenesis 1
Hypothyroidism, Macroglossia, Goiter OMIM:274400
Thyroid Lymphoma
Goiter, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Lymphadenopathy ORPHA:97285
Permanent Congenital Hypothyroidism
Macroglossia, Goiter, Hypothyroidism, Jaundice, Thyroid dysgenesis ORPHA:226292
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Bangstad Syndrome
Pancytopenia, Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus OMIM:210740
Familial Thyroid Dyshormonogenesis
Macroglossia, Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevat... ORPHA:95716
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia, Multinodular goiter OMIM:618373
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter ORPHA:3327
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Primary hyperparathyroidism, Abnormal liver parenchyma mor... ORPHA:1332
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Graves Disease, Susceptibility To, 1
Abnormal abdomen morphology, Graves disease, Goiter OMIM:275000
Hyperthyroidism, Nonautoimmune
Goiter, Hyperthyroidism, Thyroid hyperplasia OMIM:609152
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Lymphadenopathy, Nodular goiter ORPHA:142
Genetic Transient Congenital Hypothyroidism
Macroglossia, Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test res... ORPHA:226316
Pendred Syndrome
Thyroid carcinoma, Hypothyroidism, Goiter, Hyperparathyroidism ORPHA:705
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia ORPHA:83601
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating ho... ORPHA:226313
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism OMIM:613239
Familial Gestational Hyperthyroidism
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:99819
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:424
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Ovarian neoplasm, Neoplasm of the adrenal cortex, Para... ORPHA:163634
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Abnormal calcium-phosphate regulating hormone lev... ORPHA:417
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Oral ulcer, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Narrow mouth, Thyroiditis, Hypothyroidism, Thyroid adenom... OMIM:615108
Sea-Blue Histiocyte Disease
Cirrhosis, Absent axillary hair, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Neutropeni... ORPHA:525731
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Narrow mouth, Thyroiditis, Hypothyroidism, Thyroid adenom... OMIM:615109
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Congenital Hypothyroidism
Macroglossia, Goiter, Abnormal hair morphology, Hypothyroidism, Prolonged neonatal jaundice, Oral... ORPHA:442
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Gingivitis, Hyperparathyroidism, Premature loss of teeth OMIM:618107
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Narrow mouth, Thyroiditis, Lymphopenia, Hypothyroidism, T... OMIM:158350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Oral ulcer, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal testis morphology, Abnormal... ORPHA:457059
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased cir... ORPHA:90674
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Macroglossia, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating ... OMIM:218700
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Diabete... OMIM:271500
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Red hair, Pheochromocytoma, Hirsutism, Thyroid... OMIM:160980
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp, Cholestasis, Hepatome... ORPHA:59303
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter, Hashimoto thyroiditis OMIM:616858
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpuscular volume,... OMIM:615234
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Familial Adenomatous Polyposis
Abnormal cementum morphology, Goiter, Neoplasm of the adrenal gland, Neoplasm of the gallbladder,... ORPHA:733
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Alopecia, Premature ovarian insufficiency, Lymphaden... ORPHA:100025
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Multiple Endocrine Neoplasia, Type Iia
Increased circulating cortisol level, Pheochromocytoma, Thyroid C cell hyperplasia, Parathyroid a... OMIM:171400
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Multiple Endocrine Neoplasia, Type Iib
Parathyroid hyperplasia, Nodular goiter, Pheochromocytoma, Thick eyebrow, High palate, High, narr... OMIM:162300
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 level, Pituitary hypothyroidism, Prolonged neonatal jaundice, Decreased ... ORPHA:99832
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Thin vermilion border, Splenomegaly OMIM:608540
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... OMIM:203800
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism OMIM:613313
Thyroid Ectopia
Macroglossia, Hypothyroidism, Jaundice, Abnormality of the thyroid gland, Ectopic thyroid ORPHA:95712
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Macroglossia, Increased radioactive iodine uptake, Decreased circulat... ORPHA:90673
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Thyroid Hypoplasia
Jaundice, Macroglossia, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Neutropenia, Anemia, Splenomegaly OMIM:602079
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hirsutism, Hepatomegaly, Splenomegaly, Diabetes mellitus, Hepatosplenomegaly OMIM:612526
Branchiootorenal Syndrome 1
Euthyroid goiter, Increased overbite, Cleft palate, Bifid uvula, High palate, Microdontia OMIM:113650
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Pfapa Syndrome
Hepatomegaly, Abnormal oral cavity morphology, Lymphadenopathy, Splenomegaly ORPHA:42642
Long philtrum, Smooth philtrum, Synophrys, Hepatomegaly, Thin upper lip vermilion, Hypoplastic ni... OMIM:269921
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Familial Multinodular Goiter
Ovarian neoplasm, Multinodular goiter, Sertoli cell neoplasm, Testicular seminoma, Thyroid carcinoma ORPHA:276399
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Alopecia of scalp, Decreased serum testosterone concentration, Splenomegaly, Decrea... OMIM:201100
Multiple Endocrine Neoplasia Type 2
Parathyroid hyperplasia, Abnormal tongue morphology, Pheochromocytoma, Thyroid nodule, Thick verm... ORPHA:653
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypod... ORPHA:209905
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hirsutis... ORPHA:1359
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hirsutism, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter, Premature thelarche ORPHA:371428
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Cowden Syndrome
Macroglossia, Goiter, Neoplasm of the thyroid gland, Adenoma sebaceum, Furrowed tongue, Abnormali... ORPHA:201
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly, Adrenal calcification ORPHA:75234
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Pten Hamartoma Tumor Syndrome
Thyroid adenoma, Thyroid carcinoma, Multinodular goiter ORPHA:306498
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... OMIM:602347
Lymphoproliferative Syndrome 2
Hemophagocytosis, Oral ulcer, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly,... OMIM:615122
Autosomal Dominant Progressive External Ophthalmoplegia
Goiter, Hypothyroidism, Hyperthyroidism, Left ventricular hypertrophy, Diabetes mellitus, Abnorma... ORPHA:254892
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Adrenal insufficiency, Adrenocorticotropic hormo... OMIM:609981
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Aplasia/Hypoplasia of the eyebrow, Smooth philtr... ORPHA:1133
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Thin vermilion border, Narrow mouth, Ascites, Anemia, Splenomegaly ORPHA:1046
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Fair hair, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Gingival ov... OMIM:269920
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Open bite, Macroglossia, Narrow palate, Hepatomegaly, Gingival overgrowth, Splenomegaly, Type II ... ORPHA:61
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Elevated hepatic iron concentration, Cirrhosis, Extramedul... ORPHA:231222
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnor... ORPHA:507
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Cryptorchidism, Thyroid agenesis, Hypothyroidism, Ectopic thyroid, Thyroid hypoplasia, Neoplasm o... ORPHA:3047
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hyp... ORPHA:39041
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Splenomegaly OMIM:602390
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Macrocephaly/Autism Syndrome
Hepatomegaly, Long philtrum, Lymphopenia, Splenomegaly OMIM:605309
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Adrenal insufficiency, Ascites, Anemia, Splenomegaly, Adren... ORPHA:75233
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Adrenal hypoplasia, Decreased circulating cortisol level, Nat... OMIM:146510
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Hirsutism, Thrombocytopenia, Splenomegaly OMIM:314050
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy ORPHA:2584
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Thin vermilion border, Short philtrum, Deep philtrum, Wide mou... OMIM:606003
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Recurrent aphthous stomatitis, Lymphadenopathy, Splenomegaly OMIM:611762
Griscelli Syndrome Type 2
Hemophagocytosis, Hypopigmentation of hair, Premature graying of hair, Neutropenia, Pancytopenia,... ORPHA:79477
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... OMIM:616278
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Griscelli Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neutrophils, Abnormal eyel... ORPHA:381
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Glycogen Storage Disease Ixc
Hepatomegaly, Bile duct proliferation, Cirrhosis, Splenomegaly OMIM:613027
Immunodeficiency 32B
Splenomegaly OMIM:226990
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Cronkhite-Canada Syndrome
Aplasia/Hypoplasia of the eyebrow, Hepatomegaly, Furrowed tongue, Patchy alopecia, Anemia, Spleno... ORPHA:2930
Hemochromatosis, Type 1
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Cardiomegaly, Ascites, Spl... OMIM:235200
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Wide mouth, Long eyelashes, Hypodontia, Hepatomegaly, Cleft ... ORPHA:3473
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Roifman Syndrome
Long philtrum, Downturned corners of mouth, Prominent eyelashes, Lymphadenopathy, Hepatomegaly, T... OMIM:616651
Osteopetrosis With Renal Tubular Acidosis
Carious teeth, Abnormality of dental morphology, Thrombocytopenia, Hepatomegaly, Anemia, Splenome... ORPHA:2785
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Generalized hirsutism, Splenomegaly ORPHA:93476
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Oral ulcer, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, S... OMIM:308230
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Abnorma... ORPHA:100026
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Long philtrum, Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreat... OMIM:610199
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Cryptorchidism, Smooth philtrum, Hepatomegaly, Thin upper lip vermil... OMIM:235255
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, A... OMIM:612714
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Treacher-Collins Syndrome
Open bite, Cryptorchidism, Abnormal dental enamel morphology, Low anterior hairline, Narrow mouth... ORPHA:861
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, High palate, Abnormality of the spleen ORPHA:85212
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Proteus Syndrome
Lymphangioma, Open mouth, Splenomegaly OMIM:176920
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Mucopolysaccharidosis, Type Iiid
Drooling, Hirsutism, Wide mouth, Coarse hair, Synophrys, Hepatomegaly, Thick eyebrow, Splenomegal... OMIM:252940
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly ORPHA:108
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Oral ulcer, Lymphopenia, Impaired oxidati... OMIM:618935
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Type I diabetes mellitus, Anemia, Splenomegaly ORPHA:290
Oculoskeletodental Syndrome
Cryptorchidism, Oligodontia, Macroglossia, Low anterior hairline, Hypothyroidism, Hepatomegaly, S... OMIM:618440
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Scheie Syndrome
Everted lower lip vermilion, Wide mouth, Thick vermilion border, Hepatomegaly, Splenomegaly ORPHA:93474
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Macroglossia, Decreased circulating ACTH level, Decreased circulating follicl... ORPHA:226307
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Mevalonic Aciduria
Splenomegaly ORPHA:29
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615846
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Familial Tumoral Calcinosis
Abnormal palate morphology, Abnormality of the dentition, Hepatomegaly, Splenomegaly, Abnormality... ORPHA:53715
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Acholic stools OMIM:613812
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly, Generalized hirs... ORPHA:2348
Muckle-Wells Syndrome
Abnormal palate morphology, Hepatomegaly, Delayed puberty, Anemia, Splenomegaly, Recurrent aphtho... ORPHA:575
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Cirrhosis, Thick hair, Splenomegaly OMIM:613489
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia ORPHA:79312
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Short philtrum, Tented upper lip vermilion, Congenital hypothyroidism, Thyroid hypoplasia, Delaye... ORPHA:521445
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Sézary Syndrome
Abnormal lymphocyte morphology, Hepatomegaly, Nail dystrophy, Alopecia, Splenomegaly, Lymphadenop... ORPHA:3162
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Hurler-Scheie Syndrome
Hepatomegaly, Hirsutism, Thick vermilion border, Splenomegaly OMIM:607015
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Splenomegaly OMIM:252900
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly,... ORPHA:77259
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Increased mean platelet volume, Splenomegaly, Gingival bleeding OMIM:153670
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly... OMIM:263200
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Cryptorchidism, Smooth philtrum, Hepatomegaly, Thin upper lip vermil... ORPHA:1655
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Viral hepatitis, Thyroiditis, Hepatocellular carcinoma, Sclerosing ch... ORPHA:2137
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Hepatomegaly, Hypereosinophilia, Splenomegaly OMIM:617388
Mucopolysaccharidosis, Type Iiic
Everted lower lip vermilion, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Splenomegaly OMIM:252930
Trichohepatoneurodevelopmental Syndrome
Macroglossia, Downturned corners of mouth, Dental crowding, Curly hair, Woolly hair, Coarse hair,... OMIM:618268
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Short philtrum, Hypothyroidism, Hashimoto thyroiditis, Pancytopenia, Hepatomegaly, Hepatitis, Typ... OMIM:613385
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hypothyroidism, Hepatocellular carcinoma, Hepatomegaly, Decreased serum testosterone c... ORPHA:465508
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Hypopigmentation of hair, Impaired neutrophil bacteric... OMIM:214500
Hermansky-Pudlak Syndrome 2
Long philtrum, Carious teeth, Albinism, Periodontitis, Neutropenia, Smooth philtrum, Fair hair, T... OMIM:608233
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Oral cleft, Splenomegaly OMIM:615630
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, High, narrow palate, Smooth philtrum, Splenomegaly OMIM:608799
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Diabet... OMIM:225750
Prolidase Deficiency
Thrombocytopenia, Prolonged neonatal jaundice, Hepatomegaly, Facial hirsutism, Anemia, Splenomega... OMIM:170100
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Hepatic steatosis, Insulin-resistant diabetes mellitus, Polycystic ... ORPHA:79083
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Proteus-Like Syndrome
Open bite, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly, Thymus hyperpl... ORPHA:2969
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly OMIM:256550
Pseudo-Torch Syndrome 1
Long philtrum, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, High palate OMIM:251290
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis... ORPHA:53035
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Nail dystrophy, Splenomegaly OMIM:205400
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Isolated Biliary Atresia
Cirrhosis, Atretic gallbladder, Hypothyroidism, Periportal fibrosis, Hypopituitarism, Cholestasis... ORPHA:30391
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypocalc... ORPHA:169090
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Thin vermilion border, Splenomegaly OMIM:602557
Delayed eruption of teeth, Narrow palate, Abnormality of dental morphology, Abnormality of the de... ORPHA:763
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Macroglossia, Enlarged kidney, Macrovesicular hepatic steatosis, Hirsutism... OMIM:617303
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Sple... OMIM:259720
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Cleft palate, Splenomega... OMIM:614866
Myeloproliferative disorder, Splenomegaly OMIM:254450
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, ... OMIM:607765
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatiti... ORPHA:905
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Abnormal spleen morpholo... ORPHA:464329
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Cholecystitis, Hepatomegaly, Jaundice, Ascites, Splenomegaly, Portal hype... ORPHA:131
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Splenomegaly, Neutrophilia, B... ORPHA:829
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Chronic Granulomatous Disease
Abnormality of neutrophils, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Gingivitis, ... ORPHA:379
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619183
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Hepatic bridging fibrosis, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:618641
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Splenomegaly, Type II diabetes mellitus, Pancre... ORPHA:90970
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Oral ulcer, Lymphopenia, Hashimoto thyroiditis, Aphthous ulcer, Pan... OMIM:615688
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Porphyria, Congenital Erythropoietic
Abnormality of the mouth, Hemolytic anemia, Absent eyebrow, Cholelithiasis, Thrombocytopenia, Hyp... OMIM:263700
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... ORPHA:398124
Gaucher Disease, Perinatal Lethal
Narrow mouth, Open mouth, Everted lower lip vermilion, Thrombocytopenia, Hepatomegaly, Cardiomega... OMIM:608013
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Adrenal hypoplasia, Narrow mouth, Oral cleft, Thyroid hypoplasia, Cleft palate, A... ORPHA:2166
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic steatosis, Cholestasis, Hepa... ORPHA:370
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis, Hepatic fibrosis, Jaundice, He... ORPHA:567983
Stüve-Wiedemann Syndrome
Hypothyroidism, Smooth tongue, Ectopic thyroid, Abnormality of the dentition ORPHA:3206
Dyskeratosis Congenita
Carious teeth, Premature graying of hair, Anemia, Neoplasm of the pancreas, Cirrhosis, White hair... ORPHA:1775
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathyroid hormone... OMIM:239200
8P11.2 Deletion Syndrome
Cryptorchidism, Hemolytic anemia, Splenomegaly, Hypogonadotropic hypogonadism, High palate, Hypog... ORPHA:251066
Hermansky-Pudlak Syndrome 10
Albinism, Smooth philtrum, Neutropenia, Hepatomegaly, Splenomegaly OMIM:617050
Multiple Sulfatase Deficiency
Coarse hair, Smooth philtrum, Hepatomegaly, Thick eyebrow, Splenomegaly ORPHA:585
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Mucopolysaccharidosis, Type Vii
Hirsutism, Abnormality of the dentition, Hepatomegaly, Thick eyebrow, Gingival overgrowth, Spleno... OMIM:253220
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly... ORPHA:47612
Hurler Syndrome
Hirsutism, Enlarged tonsils, Thick vermilion border, Hepatomegaly, Gingival overgrowth, Splenomeg... OMIM:607014
Coach Syndrome 1
Cirrhosis, Abnormal abdomen morphology, Wide mouth, Hepatic fibrosis, Hepatomegaly, Intrahepatic ... OMIM:216360
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Adrenal hypoplasia, Thyroid hypoplasia, Cleft upper lip OMIM:308050
Mannosidosis, Alpha B, Lysosomal
Low anterior hairline, Macroglossia, Vacuolated lymphocytes, Hepatomegaly, Thick eyebrow, Hypertr... OMIM:248500
Congenital Disorder Of Glycosylation, Type Iie
Low anterior hairline, Narrow mouth, Smooth philtrum, Thick vermilion border, Hepatomegaly, Jaund... OMIM:608779
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Hepatomegaly... ORPHA:264580
Gm1-Gangliosidosis, Type I
Vacuolated lymphocytes, Hepatomegaly, Hypertrichosis, Gingival overgrowth, Splenomegaly OMIM:230500
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Macroglossia, Hepatomegaly, Hypertrichosis, Splenomegaly, Thick lower ... OMIM:309900
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Xerostomia, Leukopenia, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:809
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Cirrhosis, Cholestasis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenome... OMIM:614576
Macroglossia, Vacuolated lymphocytes, Hepatomegaly, Thick eyebrow, Cardiomegaly, Splenomegaly, Th... OMIM:230000
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thrombocytopenia, Ab... ORPHA:98849
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:259700
Hepatomegaly, Splenomegaly ORPHA:99745
Hennekam Syndrome
Delayed eruption of teeth, Short philtrum, Narrow mouth, Abnormality of dental morphology, Lympho... ORPHA:2136
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Hypopigmentation of hair, Hypothyroidism, Lymphopenia, Uncombable hair... ORPHA:84064
Hardikar Syndrome
Hepatomegaly, Jaundice, Cholangitis, Cleft palate, Cleft upper lip, Splenomegaly, Portal hyperten... OMIM:612726
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
American Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Sialidosis Type 1
Thick lower lip vermilion, Splenomegaly ORPHA:812
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Prolidase Deficiency
Low anterior hairline, Carious teeth, Hirsutism, Hepatomegaly, White forelock, Splenomegaly, Gene... ORPHA:742
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Premature graying of hair, Hepatic steatosis, Polycystic ovaries, Hepatom... ORPHA:280365
Histiocytosis-Lymphadenopathy Plus Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimuation test, Hepatomegal... OMIM:602782
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Dystrophic toenail, Hypersplenism, Splenomegaly OMIM:616028
Whipple Disease
Hypothyroidism, Hepatomegaly, Anemia, Splenomegaly, Mediastinal lymphadenopathy ORPHA:3452
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Mucopolysaccharidosis Type 1
Low anterior hairline, Thick lower lip vermilion, Everted lower lip vermilion, Gingival overgrowt... ORPHA:579
Primary Sclerosing Cholangitis
Cirrhosis, Thyroiditis, Hepatocellular carcinoma, Cholelithiasis, Cholestasis, Hepatic fibrosis, ... ORPHA:171
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Gingival fibromatosis, Hirsutism, Synophrys, Hepatomegaly, Thick eyebr... OMIM:135500
Mucopolysaccharidosis Type 6
Macroglossia, Thick lower lip vermilion, Splenomegaly ORPHA:583
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Oral ulcer, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Lymphade... OMIM:260920
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Cholestatic liver diseas... ORPHA:540
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Cranioectodermal Dysplasia 2
Sparse eyebrow, Sparse hair, Broad philtrum, Polysplenia, Biliary cirrhosis, High palate, Everted... OMIM:613610
Kagami-Ogata Syndrome
Hepatomegaly, Long philtrum, Frontal hirsutism, Splenomegaly OMIM:608149
Gm1 Gangliosidosis
Long philtrum, Macroglossia, Narrow mouth, Hirsutism, Gingival overgrowth, Splenomegaly, Generali... ORPHA:354
Legionnaires Disease
Lymphopenia, Jaundice, Hepatitis, Pancreatitis, Splenomegaly, Bone marrow hypocellularity, Lympha... ORPHA:549
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Hypopigmentation of hair, Vacuolated ... ORPHA:167
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly OMIM:139090
Cardiofaciocutaneous Syndrome 1
Open bite, Sparse hair, Open mouth, Absent eyelashes, Deep philtrum, Curly hair, Thick vermilion ... OMIM:115150
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:92
Polycythemia Vera
Hepatomegaly, Splenomegaly, Portal hypertension, Acute leukemia, Gingival bleeding ORPHA:729
Pearson Syndrome
Median cleft lip and palate, Exocrine pancreatic insufficiency, Hypoparathyroidism, Reticulocytos... ORPHA:699
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Hepatomegaly, Stomatitis, Splenomegaly OMIM:612852
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:257220
Glycogen Storage Disease Ii
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly OMIM:232300
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Jaundice, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, L... OMIM:603553
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly ORPHA:36412
Hepatomegaly, Congenital hepatic fibrosis, Splenomegaly ORPHA:91131
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy OMIM:617591
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233710
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatic steatosis, Hirsutism, Hepatomegaly, Splenomegaly OMIM:613327
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:607625
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Joubert Syndrome With Hepatic Defect
Highly arched eyebrow, Cirrhosis, Neoplasm of the liver, Hepatomegaly, Oral cleft, Congenital hep... ORPHA:1454
Lymphatic Malformation 6
Hydrocele testis, Hypothyroidism, Ascites, Splenomegaly, Intestinal lymphangiectasia OMIM:616843
Familial Mediterranean Fever
Peritonitis, Leukocytosis, Orchitis, Aphthous ulcer, Hepatomegaly, Splenomegaly, Neutrophilia OMIM:249100
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis, Thrombo... ORPHA:731
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Periportal fibrosis, Natal tooth, Hamartoma of tongue, Hepatomegaly,... OMIM:269860
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Sideroblastic anemia, B lymphocytopenia, Brittle hair, Splenomegal... OMIM:616084
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Lym... OMIM:267700
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233690
Kikuchi-Fujimoto Disease
Lymphocytosis, Oral ulcer, Generalized lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomega... ORPHA:50918
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Hepatomegaly, Splenom... ORPHA:77297
Hajdu-Cheney Syndrome
Open bite, Long philtrum, Thin vermilion border, Low anterior hairline, Narrow mouth, Downturned ... ORPHA:955
Waldenström Macroglobulinemia
Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Gingival bleeding, Splenomegaly, Leu... ORPHA:33226
D-Bifunctional Protein Deficiency
Long philtrum, Hepatic steatosis, Primary adrenal insufficiency, Fetal ascites, Cholestasis, Hepa... OMIM:261515
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:231005
Hepatomegaly, Splenomegaly ORPHA:2746
Elevated circulating growth hormone concentration, Abnormal hair quantity, Hepatomegaly, Anemia, ... ORPHA:2796
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Macroglossia, Hirsutism, Splenomegaly OMIM:253200
Hurler Syndrome
Macroglossia, Everted lower lip vermilion, Thick vermilion border, Hepatomegaly, Thick eyebrow, S... ORPHA:93473
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Hirsutism, Acute pancreat... OMIM:608594
Refsum Disease
Splenomegaly ORPHA:773
Chronic leukemia, Hepatomegaly, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Meckel Syndrome, Type 1
Cryptorchidism, Accessory spleen, Adrenal hypoplasia, Natal tooth, Malformation of the hepatic du... OMIM:249000
Tyrosinemia, Type I
Cirrhosis, Enlarged kidney, Hepatocellular carcinoma, Hepatomegaly, Ascites, Splenomegaly, Pancre... OMIM:276700
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Hirsutism, Acute pancreat... OMIM:269700
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly ORPHA:3035
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Splenomegaly ORPHA:584
Narrow mouth, Splenomegaly, Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:35107
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Adrenal hypoplasia, Primary adrenal insufficiency, Natal toot... ORPHA:672
Mucolipidosis Ii Alpha/Beta
Long philtrum, Macroglossia, Hepatomegaly, Sparse and thin eyebrow, Cardiomegaly, Progressive alv... OMIM:252500
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Macroglossia, Polysplenia, Hepatoblastoma, Wide mouth, Hepatomegaly, Cleft palate... ORPHA:373
Biotinidase Deficiency
Hepatomegaly, Alopecia, Splenomegaly OMIM:253260
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Splenomegaly, Abnormality of the live... ORPHA:1572
Reynolds Syndrome
Lip telangiectasia, Biliary cirrhosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:613471
Cockayne Syndrome A
Cryptorchidism, Carious teeth, Delayed eruption of primary teeth, Hypoplasia of teeth, Dry hair, ...