Gene: Cul9 MGI:1925559

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Gene Summary

Name:
cullin 9
Synonyms:
1810035I07Rik,  Parc

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged thymus Cul9em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Cul9em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating potassium level Cul9em1(IMPC)Ccpcz HOM Early adult 1.38×10-06
vertebral transformation Cul9em1(IMPC)Ccpcz HOM   Early adult 7.69×10-06
increased circulating lactate dehydrogenase level Cul9em1(IMPC)Ccpcz HOM Early adult 2.43×10-05
abnormal vertebrae morphology Cul9em1(IMPC)Ccpcz HOM Early adult 1.98×10-05
enlarged spleen Cul9em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal kidney morphology Cul9em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating creatine kinase level Cul9em1(IMPC)Ccpcz HOM Early adult 2.37×10-09
decreased mean platelet volume Cul9em1(IMPC)Ccpcz HOM   Early adult 9.10×10-05
abnormal vertebral arch morphology Cul9em1(IMPC)Ccpcz HOM   Early adult 1.07×10-06
increased blood urea nitrogen level Cul9em1(IMPC)Ccpcz HOM Early adult 8.94×10-06
abnormal thymus morphology Cul9em1(IMPC)Ccpcz HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Human diseases caused by Cul9 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 Cul9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Serrated Polyposis Syndrome
Biliary tract neoplasm, Prostate cancer, Ovarian neoplasm, Germ cell neoplasia, Colorectal polypo... ORPHA:157798
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma, Breast carcinoma OMIM:167000
Punctate Palmoplantar Keratoderma Type 1
Hodgkin lymphoma, Renal cell carcinoma, Breast carcinoma, Transitional cell carcinoma of the blad... ORPHA:79501
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Subependymoma
Ovarian neoplasm, Spinal cord tumor, Neoplasm of the liver, Ependymoma, Neoplasm of the breast, S... ORPHA:251639
Ependymoma
Ovarian neoplasm, Spinal cord tumor, Neoplasm of the liver, Ependymoma, Neoplasm of the breast, S... ORPHA:251636
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Mul... ORPHA:163634
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Weight loss, Hepatomegaly, Sarcoma, Neo... ORPHA:83469
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Pilomatrixoma, Pleuropulmonary... ORPHA:276399
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm OMIM:615723
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma ORPHA:50944
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Rhabdomyosarcoma, Embryonal, 2
Goiter, Pleuropulmonary blastoma, Multinodular goiter, Nephroblastoma, Ovarian thecoma, Embryonal... OMIM:180295
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Neoplasm of the breast, Weight loss, Neoplasm of the respiratory system, Neoplasm ORPHA:2221
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Apolipoprotein A-I Deficiency
Anemia, Splenomegaly, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Familial Melanoma
Neoplasm of the stomach, Neoplasm of the pancreas, Neoplasm of the breast, Melanoma ORPHA:618
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Hamartoma, Ovarian neoplasm, Neoplasm of the thyroid gland, Neoplasm of the breast, Visceral angi... ORPHA:137608
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Weight loss ORPHA:66661
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Visceral angiomatosis, ... ORPHA:296
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Hamartoma, Hurthle cell thyroid adenoma, Papillary re... OMIM:145001
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Ovarian cyst, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Liposarcoma
Sarcoma, Weight loss ORPHA:69078
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Anteverted nares, Breast carcinoma, Failure to thrive, Prominent nasal bridge OMIM:617883
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Infantile Myofibromatosis
Gingival fibromatosis, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Neoplasm ... ORPHA:2591
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Werner Syndrome
Ovarian neoplasm, Neoplasm, Breast carcinoma, Pulmonary artery stenosis, Melanoma, Acral lentigin... ORPHA:902
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Extrahepatic cholestasis, Neoplasm of the liver, Weight loss, Mela... ORPHA:1333
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Spinal cord tumor, Weight loss, Uterine neoplasm, Jaundice, Brain neoplasm, Neo... ORPHA:370348
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly,... OMIM:237800
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Neoplasm of the skin ORPHA:626
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612926
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Chronic hemolytic anemia, Episodic hemolytic... OMIM:210250
Ovarian Fibrothecoma
Abnormality of the ovary, Pleural effusion, Fibrosarcoma, Abnormality of the endometrium, Gonadal... ORPHA:314478
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Anemia, Splenomegaly, De... OMIM:615234
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Weight loss, Neoplasm of the liver, Sarcoma ORPHA:69077
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
46,Xy Sex Reversal 6
Chordee, Gonadoblastoma, Sex reversal, Dysgerminoma, Hypospadias, Clitoral hypertrophy OMIM:613762
Frasier Syndrome
Ovarian gonadoblastoma, Gonadal dysgenesis, Male pseudohermaphroditism OMIM:136680
Ghosal Hematodiaphyseal Dysplasia
Abnormal form of the vertebral bodies, Anemia, Splenomegaly ORPHA:1802
Ovarian Fibroma
Basal cell carcinoma, Abnormality of the ovary, Odontogenic keratocysts of the jaw, Pleural effus... ORPHA:314473
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... OMIM:603552
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Splenomegaly, Hepatomegaly OMIM:615947
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Thrombocytopenia, Elevated circulating C-reactive prote... ORPHA:231111
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm, Trichilemmoma ORPHA:65285
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, A... OMIM:613673
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Carcinoma, Meningioma, Fibroadenoma ... OMIM:158350
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly, Hyperkalemia OMIM:608885
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia OMIM:141000
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Esophageal neoplasm, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Papil... ORPHA:523
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Nephropath... OMIM:600903
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Carcinoid tumor, Brain neoplas... ORPHA:79140
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly,... OMIM:607616
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Conjugated hyperbilirubinem... OMIM:616860
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:614480
Yellow Nail Syndrome
Biliary tract neoplasm, Renal neoplasm, Pleuritis, Bronchiectasis, Neoplasm, Sarcoma, Neoplasm of... ORPHA:662
Msh3-Related Attenuated Familial Adenomatous Polyposis
Multiple gastric polyps, Colon cancer, Ovarian dermoid cyst, Neoplasm of the rectum, Uterine leio... ORPHA:480536
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reti... OMIM:274150
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Myh9-Related Disease
Congenital thrombocytopenia, Increased mean platelet volume, Nephropathy, Giant platelets, Renal ... ORPHA:182050
Hereditary Renal Hypouricemia
Abnormal renal physiology, Mild proteinuria, Hematuria, Increased blood urea nitrogen, Acute kidn... ORPHA:94088
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Exostoses, Multiple, Type Ii
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133701
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Abnormal thrombocyte morphology ORPHA:172
Fechtner syndrome
Hematuria, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Stage 5 chronic kidney ... OMIM:153640
Exostoses, Multiple, Type I
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133700
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Hyperam... OMIM:271500
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymph... ORPHA:100025
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Pheochromocytoma, Jaundice, Carcinoid tumor, Neurofibromas OMIM:162240
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Acute kidney injury, Elevated creatine kinase after exercise, Myoglobinuria, Hy... ORPHA:57
Sandhoff Disease
Hepatomegaly, Kyphosis, Splenomegaly ORPHA:796
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Neoplasm of the rectum, Neoplasm of the nose, Nasal polyposis, Esophageal... ORPHA:2869
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Ovarian neoplasm ORPHA:231632
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... OMIM:616828
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Acute kidney injury, Reticulocy... OMIM:235400
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pr... OMIM:618892
Cowden syndrome 3
Neoplasm of the thyroid gland, Uterine leiomyoma, Renal cell carcinoma OMIM:615106
Infantile Liver Failure Syndrome 3
Platyspondyly, Beaking of vertebral bodies, Hepatic steatosis, Hepatic bridging fibrosis, Cholest... OMIM:618641
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria OMIM:268200
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Mirage Syndrome
Scoliosis, Cryptorchidism, Microphallus, Lymphopenia, Hyponatremia, Thrombocytopenia, Hypospadias... OMIM:617053
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Endometrial carcinoma, Colorectal polyposis,... ORPHA:447877
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Neoplasm of the rectum, Es... ORPHA:44890
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Sclerotic vertebral endplates, Thrombocytopenia, Hepatomegaly, Anemia, Splenomeg... OMIM:611490
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficienc... ORPHA:650
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
Pelger-Huet Anomaly
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombo... OMIM:169400
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal tissue inappropriate for external genitalia or chromosomal sex... OMIM:194080
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Hyperbilirubinemia, Portal hyperte... OMIM:616278
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal testis morphology, Abnormal penis morphology, Neoplasm of the thyroid gland, Neo... ORPHA:457059
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Renal cell carcinoma, Cuta... OMIM:150800
Glioma Susceptibility 3
Medulloblastoma, Glioblastoma multiforme, Astrocytoma OMIM:613029
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Splenomegaly OMIM:602271
Von Hippel-Lindau Syndrome
Pulmonary capillary hemangiomatosis, Retinal capillary hemangioma, Pheochromocytoma, Pancreatic c... OMIM:193300
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Retinoblastoma
Retinoblastoma, Lymphoma, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Cryptorchidism, Hyponatremia, Renal salt wasting OMIM:614736
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hemolytic anemia, Reticulocytosis, Distal renal tubular acidosis, Isothenuria, ... OMIM:611590
Basal Cell Nevus Syndrome
Basal cell carcinoma, Cardiac rhabdomyoma, Medulloblastoma, Cardiac fibroma, Odontogenic keratocy... OMIM:109400
Familial Colorectal Cancer Type X
Basal cell carcinoma, Benign neoplasm of the central nervous system, Neuroblastoma, Neoplasm of t... ORPHA:440437
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Hepatomegaly, Spinal canal stenosis, Splenomegaly, Abnormality of ... ORPHA:93476
Lathosterolosis
Lumbosacral meningocele, Horseshoe kidney, Intrahepatic cholestasis, Hyperbilirubinemia, Increase... OMIM:607330
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Enlarged mese... OMIM:209950
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Conjugated hyperbilirubinemia, Hepatomegaly, Jaund... OMIM:214900
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Hydrocele testis, Unilateral renal hypoplasia, Hematuria, Increased blood urea nitrogen,... ORPHA:49041
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Azotemia, Familial
Azotemia OMIM:109160
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Spleno... OMIM:612526
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Aminoaciduria, Splenomegaly ORPHA:664
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:300635
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Increased circulating renin level OMIM:203400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Increased circulating renin level OMIM:610600
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative ... ORPHA:251004
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Desmoid Tumor
Fibroma, Intestinal polyposis, Neoplasm of the skin, Desmoid tumors ORPHA:873
Generalized Pseudohypoaldosteronism Type 1
Recurrent tonsillitis, Hyponatremia, Cholelithiasis, Increased circulating renin level, Hyperkalemia ORPHA:171876
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Splenomegaly, Increased se... OMIM:602390
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly ORPHA:721
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
Muir-Torre Syndrome
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... ORPHA:587
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Neuroblastoma, Neoplasm, Breast carcinoma, Neoplasm of the lung, Small cell lun... ORPHA:1183
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Adenocarcinoma of the colon, Ovarian neoplasm, Elevated hepatic transaminas... ORPHA:100079
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatitis, Renal insufficie... ORPHA:79312
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria, Splenomegaly ORPHA:882
Paragangliomas 7
Pheochromocytoma, Paraganglioma OMIM:618475
Carney Complex
Elevated circulating growth hormone concentration, Osteochondroma, Cardiac myxoma, Bronchogenic c... ORPHA:1359
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Back pain, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Renal hypoplasia, Lymphopenia, Increa... ORPHA:84064
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Hyperbilirubinemia, Cholelithias... OMIM:235700
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Central vertebral hypoplasia, Hepatomegaly, Lumbar hyperlord... OMIM:602557
Trichohepatoenteric Syndrome 1
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean pl... OMIM:222470
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Sp... OMIM:185000
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypoa... ORPHA:507
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Renal sodium wasting, Hyponatremia, Increased circulating renin level ORPHA:556037
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly OMIM:611762
Crouzon Syndrome
Dysgerminoma, Abnormal nasopharynx morphology OMIM:123500
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Sp... OMIM:182900
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Chronic ki... ORPHA:94059
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Thrombocytopenia, Reduced natural kil... OMIM:616050
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Apert Syndrome
Choanal atresia, Ovarian neoplasm, Depressed nasal bridge ORPHA:87
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Renal sodium wasting, Hyponatremia, Increased circulating renin level ORPHA:556030
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:618398
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Nasal polyposis, Gastrointestinal carci... OMIM:175200
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Soft tissue neoplasm, Genital neoplasm, Neoplasm of the liver, Uterine neoplasm,... ORPHA:2126
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Cockayne Syndrome Type 1
Scoliosis, Cryptorchidism, Increased blood urea nitrogen, Hepatomegaly, Anemia, Renal insufficien... ORPHA:90321
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Jaundice, ... OMIM:109270
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Carcinoma, Renal a... OMIM:610755
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Tuberous Sclerosis 2
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Pulmonary lymphangiomyo... OMIM:613254
Milroy Disease
Hydrocele testis, Angiosarcoma, Neoplasm of the skin ORPHA:79452
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepati... OMIM:278000
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Acute kidney injury, Leukocytosis, Hypernatremia, Hyponatremia, Ele... ORPHA:94093
Grfoma
Intestinal carcinoid, Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth ho... ORPHA:97261
Mastocytosis
Chronic leukemia, Hepatomegaly, Sarcoma, Splenomegaly, Acute leukemia ORPHA:98292
Takenouchi-Kosaki Syndrome
Scoliosis, Cryptorchidism, Unilateral renal agenesis, Increased mean platelet volume, Thrombocyto... OMIM:616737
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Scoliosis, Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatin... OMIM:223900
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Increased blood urea nitrogen, Nocturia, Elevated circulating creatini... ORPHA:230
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Proteus Syndrome
Ovarian neoplasm, Neoplasm, Bronchogenic cyst, Lymphangioma, Thymus hyperplasia, Depressed nasal ... ORPHA:744
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Nephrotic syndrome, Cardiome... OMIM:269920
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly OMIM:604173
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Retinoblastoma
Retinoblastoma, Glioma, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Leukemia, Pineo... ORPHA:790
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Sialidosis Type 2
Kyphosis, Nephropathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:264350
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Hyperlipidemia... ORPHA:79477
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Monosomy 9Q22.3
Basal cell carcinoma, Medulloblastoma, Cardiac fibroma, Short nose, Odontogenic keratocysts of th... ORPHA:77301
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hepa... OMIM:207750
Ppoma
Intestinal carcinoid, Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth ho... ORPHA:97278
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Sandwich appear... OMIM:259700
Multiple Myeloma
Acute kidney injury, Elevated circulating creatinine concentration, Hyperproteinemia, Nephropathy... ORPHA:29073
Beta-Thalassemia Intermedia
Cirrhosis, Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedul... ORPHA:231222
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly,... OMIM:266200
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration ORPHA:79292
Medulloblastoma
Medulloblastoma OMIM:155255
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Abnormal form of the vertebral bodies, Pancreatic cysts, A... ORPHA:464329
Atypical Werner Syndrome
Renal neoplasm, Premature ovarian insufficiency, Ovarian neoplasm, Neoplasm of the oral cavity, A... ORPHA:79474
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Proteus Syndrome
Lymphangioma, Kyphoscoliosis, Spinal canal stenosis, Splenomegaly OMIM:176920
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Hypospadias, Hypoplasia of penis ORPHA:1046
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Oculoskeletodental Syndrome
Scoliosis, Hypocalcemia, Cryptorchidism, Mucopolysacchariduria, Thoracic kyphosis, Hepatomegaly, ... OMIM:618440
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Birk-Landau-Perez Syndrome
Renal insufficiency, Tubulointerstitial nephritis, Hyperkalemia OMIM:617595
Addison Disease
Hypoparathyroidism, Thiamine-responsive megaloblastic anemia, Primary testicular failure, Hyponat... ORPHA:85138
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Abnormal thromboc... OMIM:612840
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Griscelli Syndrome
Abnormality of neutrophils, Abnormal circulating lipid concentration, Thrombocytopenia, Jaundice,... ORPHA:381
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Abnormal respiratory system morphology, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Fibroma... ORPHA:1018
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, H... OMIM:259720
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Ovoid thoracolumbar vertebrae, Heparan sulfate excretion in urine, Splenomegaly OMIM:252900
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, General... OMIM:251880
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia, Vertebral comp... OMIM:230800
Multiple Endocrine Neoplasia Type 4
Adrenocortical adenoma, Elevated circulating growth hormone concentration, Insulinoma, Carcinoid ... ORPHA:276152
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Hyponatremia, Congenital adrenal hyperplasia, Increased circulating renin level, ... ORPHA:90791
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
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
Roifman Syndrome
Biconvex vertebral bodies, Irregular vertebral endplates, Lymphadenopathy, Hepatomegaly, Splenome... OMIM:616651
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Gaucher Disease Type 1
Cirrhosis, Hematuria, Kyphosis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepato... ORPHA:77259
Vipoma
Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth hormone concentration, G... ORPHA:97282
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Renal insuf... ORPHA:108
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly ORPHA:85414
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Proximal tubulopathy, Increased serum prostaglandin E2, Increas... OMIM:241150
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lympho... ORPHA:275761
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Hepatocellular carcinoma, Hep... OMIM:601847
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, ... OMIM:235200
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Diabetes Insipidus, Neurohypophyseal Type
Hydronephrosis, Hypokalemia, Polyuria, Central diabetes insipidus OMIM:304900
Cowden Syndrome
Adenoma sebaceum, Neoplasm, Colorectal polyposis, Conjunctival hamartoma, Breast carcinoma, Hamar... ORPHA:201
Familial Hypoaldosteronism
Hyponatremia, Renal salt wasting, Increased circulating renin level, Proximal renal tubular acido... ORPHA:427
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Somatostatinoma
Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth hormone concentration, E... ORPHA:97283
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Normocytic anemia, Decreased urin... ORPHA:95409
Turcot Syndrome With Polyposis
Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cerebellar ... ORPHA:99818
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperprolinemia, Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Macrocytic anemia OMIM:619046
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Ovoid thoracolumbar vertebrae, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Cryptorchidism, Hepatomegaly, Thyroid... OMIM:235255
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Nephrotic syndrome, Splenomegaly, Hepatomegaly OMIM:615846
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Fucosidosis
Scoliosis, Absent/hypoplastic coccyx, Vacuolated lymphocytes, Oligosacchariduria, Hepatomegaly, A... OMIM:230000
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Abnormal circulating lipid concentration, Hepatomegaly... ORPHA:829
Monosomy 22
Aplasia of the thymus, Meningioma, Gonadal neoplasm, Sarcoma, Schwannoma, Hepatosplenomegaly, Mic... ORPHA:96123
Steinert Myotonic Dystrophy
Male hypogonadism, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Choroidal melan... ORPHA:273
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation OMIM:613027
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Hepatomegaly, Calcinosis, Hypercalc... OMIM:239200
Mevalonic Aciduria
Fluctuating hepatomegaly, Leukocytosis, Thrombocytopenia, Elevated urine mevalonic acid, Elevated... OMIM:610377
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Uterine leiomyoma, Abnormality of the parathyroid morphology, Renal hamartoma, Nephrobla... ORPHA:99880
Neurofibromatosis Type 1
Cryptorchidism, Lisch nodules, Neoplasm of the gastrointestinal tract, Urinary tract neoplasm, Pl... ORPHA:636
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Back pain, Thrombocytopenia, Jaundice, Hepatomegal... ORPHA:905
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Insulinoma, Pituit... ORPHA:652
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Low back pain, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia... ORPHA:86843
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Alpha-Mannosidosis
Scoliosis, Kyphosis, Hepatomegaly, Splenomegaly, Short neck ORPHA:61
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Elevated... ORPHA:1451
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Mucopolysaccharidosis, Type Vii
Scoliosis, Thoracolumbar kyphosis, Platyspondyly, Dermatan sulfate excretion in urine, Heparan su... OMIM:253220
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:235555
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Parathyroid Carcinoma
Parathyroid carcinoma, Fibroma, Uterine leiomyoma, Abnormality of the parathyroid morphology, Nep... ORPHA:143
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Sialidosis Type 1
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Aminoaciduria, Urinary excretion of s... ORPHA:812
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Platyspondyly, Aplasia of the thymus, Autoimmune thrombocytopenia, Auto... OMIM:102700
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Gm1-Gangliosidosis, Type I
Scoliosis, Vacuolated lymphocytes, Beaking of vertebral bodies, Kyphosis, Hepatomegaly, Splenomeg... OMIM:230500
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Short neck, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, ... OMIM:606003
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Medullary nephrocalcinosis, Hypercalci... OMIM:300971
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypocholesterolemi... OMIM:607765
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal renal physiology, Neutro... ORPHA:540
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Neutrophilia, ... OMIM:612852
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine, Hepatomegaly, Ovoid thoracolumbar vertebrae, Splenomegaly, Ky... OMIM:252930
Pycnodysostosis
Hyperlordosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Kyphosis, Hepa... ORPHA:763
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Cryptorchidism, Short neck, Hepatomeg... ORPHA:1655
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Retinal capillary hemangioma, Pancreatic cysts, Endolymphatic sac tum... ORPHA:892
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicular hepatic steatosis, Neutropeni... OMIM:617303
Liddle Syndrome
Renal insufficiency, Hypokalemia, Nephropathy ORPHA:526
Mucopolysaccharidosis Type 7
Scoliosis, Mucopolysacchariduria, Anterior beaking of lumbar vertebrae, Hepatitis, Ascites, Splen... ORPHA:584
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Renal magnesium wasting, Episodic hypokalemia, Hypomagnesemia, Nephrocal... ORPHA:564178
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Decreased mean corpusc... ORPHA:231226
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Fibrosarcoma, Patent ductus arteriosus ORPHA:33001
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Scoliosis, Unilateral renal agenesis, Increased mean platelet volume, Thrombocytopenia, Hydroneph... ORPHA:487796
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Hyponatremia, Jaundice, Adrenal hyperplasia, Hyperkalemia ORPHA:90790
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Ovoid vertebral bodies, Kyphosis, Splenomegaly, Short neck ORPHA:583
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Immunodeficiency 32B
Splenomegaly OMIM:226990
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Decreased circulating renin level, Hypokalemia, Adrenal hyperplasia OMIM:613677
Pituitary Adenoma 4, Acth-Secreting
Biconcave vertebral bodies, Kyphosis, Hypokalemia, Nephrolithiasis, Vertebral compression fractur... OMIM:219090
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Familial Glucocorticoid Deficiency
Cryptorchidism, Hypernatriuria, Hyponatremia, Leydig cell neoplasia, Renal salt wasting, Testicul... ORPHA:361
Hurler-Scheie Syndrome
Hepatomegaly, Scoliosis, Kyphosis, Splenomegaly OMIM:607015
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Jaundice, Pancreatitis, Sp... OMIM:238600
Lipodystrophy, Congenital Generalized, Type 4
Scoliosis, Hyperlordosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Spinal rigidity,... OMIM:613327
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Decreased mean corpusc... ORPHA:231214
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Meige Disease
Pleural effusion, Laryngeal edema, Angiosarcoma ORPHA:90186
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadias, Abnormality... ORPHA:168558
Bernard-Soulier Syndrome
Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macroscopic hematuria, G... ORPHA:274
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic steato... ORPHA:370
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm, Hepatic steatosis, Neoplasm of the pancreas, Premature ovarian insufficiency ORPHA:2959