Gene: Tph2 MGI:2651811

Gene Summary

Name:

tryptophan hydroxylase 2

Synonyms:

N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal liver morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal ovary morphology	Tph2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Tph2^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal testis morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
persistence of hyaloid vascular system	Tph2^em1(IMPC)Mbp	HET	Early adult	2.21×10^-07
enlarged spleen	Tph2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged ovary	Tph2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina vasculature morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	7.61×10^-07
increased eosinophil cell number	Tph2^em1(IMPC)Mbp	HOM	Early adult	7.52×10^-05
abnormal spleen morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
increased brain size	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged testis	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta vasculature	Tph2^em1(IMPC)Mbp	HET	E18.5	0.00
abnormal brain morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Tph2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta vasculature	Tph2^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal placenta morphology	Tph2^em1(IMPC)Mbp	HET	E18.5	0.00
enlarged kidney	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
small liver	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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.

MicroCT E18.5

Embryo reconstruction

8 Images

View images

Human diseases caused by Tph2 mutations

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

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

Human diseases associated with Tph2 (2 diseases)
Human diseases predicted to be associated with Tph2 (884 diseases)

The table below shows human diseases associated to Tph2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Major Depressive Disorder		Depression	OMIM:608516
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7		Depression	OMIM:613003

The table below shows human diseases predicted to be associated to Tph2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Severe Primary Trimethylaminuria	Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity	ORPHA:468726
Intellectual Developmental Disorder, Autosomal Recessive 25	Anxiety	OMIM:614346
Panic Disorder 1	Anxiety	OMIM:167870
Obsessive-Compulsive Disorder	Depression, Anxiety, Skin-picking	OMIM:164230
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology	ORPHA:482
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Immunodeficiency 7	Lymphadenopathy, Hypereosinophilia	OMIM:615387
Intellectual Developmental Disorder, X-Linked 63	Anxiety	OMIM:300387
Immunodeficiency 88	Eosinophilia	OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	OMIM:131440
Autism	Impaired ability to form peer relationships, Increased serum serotonin, Abnormal nonverbal commun...	OMIM:209850
Autism, Susceptibility To, X-Linked 3	Lack of peer relationships, Increased serum serotonin, Abnormal nonverbal communicative behavior	OMIM:300496
Autism, Susceptibility To, 8	Impaired ability to form peer relationships, Increased serum serotonin, Abnormal nonverbal commun...	OMIM:607373
Autism, Susceptibility To, X-Linked 1	Lack of peer relationships, Increased serum serotonin, Abnormal nonverbal communicative behavior	OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome	Impaired ability to form peer relationships, Increased serum serotonin, Abnormal nonverbal commun...	OMIM:608636
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Hepatorenocardiac Degenerative Fibrosis	Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car...	OMIM:619902
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Asperger Syndrome, X-Linked, Susceptibility To, 2	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:300494
Asperger Syndrome, Susceptibility To, 1	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:608631
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hepatic Adenomas, Familial	Polycystic ovaries, Hepatocellular adenoma	OMIM:142330
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation	OMIM:614023
Halothane Hepatitis	Eosinophilia, Hepatitis, Viral hepatitis, Jaundice	OMIM:234350
Geniospasm 1	Anxiety	OMIM:190100
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
46,Xx Testicular Disorder Of Sex Development	Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size	ORPHA:393
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	ORPHA:517
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Leptin Receptor Deficiency	Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha...	OMIM:614963
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie...	ORPHA:90301
Major Depressive Disorder	Depression	OMIM:608516
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane...	OMIM:601859
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat...	OMIM:613496
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Omenn Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l...	OMIM:603554
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Abnormal autonomic nervous system physiology, Hypotension, Attention deficit hy...	ORPHA:369873
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Macrosomia Adiposa Congenita	Eosinophilia	OMIM:248100
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia	ORPHA:157991
Riboflavin Transporter Deficiency	Sleep apnea, Abnormal autonomic nervous system physiology, Cachexia, Respiratory insufficiency, O...	ORPHA:97229
Nephronophthisis 16	Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,...	OMIM:615382
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmi...	ORPHA:45452
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex...	OMIM:602450
Early-Onset Schizophrenia	Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, No ...	ORPHA:96369
Burkitt Lymphoma	Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased...	ORPHA:543
Chorea, Benign Hereditary	Anxiety	OMIM:118700
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice	OMIM:312500
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb...	OMIM:615285
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys...	OMIM:208540
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Familial Male-Limited Precocious Puberty	Oligospermia, Precocious puberty, Macroorchidism, Long penis	ORPHA:3000
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Cinca Syndrome	Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:607115
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane...	OMIM:603909
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Myoclonus-Dystonia Syndrome	Depression, Personality disorder, Anxiety, Panic attack	ORPHA:36899
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Normal interictal EEG, Anxiety	OMIM:602066
Autism, Susceptibility To, X-Linked 2	Lack of peer relationships, Increased serum serotonin, Abnormal nonverbal communicative behavior	OMIM:300495
Immunodeficiency 97 With Autoinflammation	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly...	OMIM:619802
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid...	OMIM:237800
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly, Eosinophilic liver infiltration, Hepatic cysts	OMIM:618999
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism	ORPHA:242
Aa Amyloidosis	Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,...	ORPHA:85445
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Multiple System Atrophy, Parkinsonian Type	Apathy, Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phe...	ORPHA:98933
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia	OMIM:615415
Dystonia 30	Hypothalamic hamartoma	OMIM:619291
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Gonadoblastoma	Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali...	ORPHA:206484
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog...	OMIM:615234
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Lymphocytosis, Hepatosplenomegaly, Eosinophilia, Autoimmune thrombocytopenia, T lymp...	ORPHA:169154
Pandas	Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri...	ORPHA:66624
Cystic Echinococcosis	Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil...	ORPHA:400
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Parkinsonism With Polyneuropathy	Depression, Decreased motor nerve conduction velocity, Anxiety, Decreased amplitude of sensory ac...	OMIM:619279
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Functioning Gonadotropic Adenoma	Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho...	ORPHA:91348
Multiple System Atrophy, Cerebellar Type	Apathy, Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phe...	ORPHA:227510
Roifman Syndrome	Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia	ORPHA:353298
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly	OMIM:614480
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology, Arrhythmia, Weight loss, Cardiomyopathy, Atrioventr...	ORPHA:85447
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice	OMIM:224100
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Roifman Syndrome	Eosinophilia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:616651
Omenn Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, L...	ORPHA:39041
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Sleep apnea, Growth delay, Abnormal autonomic nervous system physiology, Arrhythmia, Abnormal pat...	ORPHA:168593
Wells Syndrome	Eosinophilia	ORPHA:901
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Decreased testicular size, Hypogonadism	ORPHA:1875
Ovarian Fibroma	Mesenteric cyst, Peritonitis, Gonadal calcification, Ovarian fibroma, Ascites, Abnormality of the...	ORPHA:314473
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Wild Type Attr Amyloidosis	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio...	ORPHA:330001
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Apnea, Abnormal autonomic nervous system physiology, Bradycardia	OMIM:614498
Congenital Megacalycosis	Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg...	ORPHA:93109
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Self-injurious behavior, Abnormal autonomic nervous system physiology	OMIM:615548
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:618852
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Depression	OMIM:613003
Tyrosinemia Type 1	Hepatocellular carcinoma, Hepatomegaly, Splenomegaly	ORPHA:882
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Tetragametic Chimerism	Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,...	ORPHA:199310
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Hepatomegaly, Lymphopenia, Hepatosplenomegaly, Lymphadenitis, Eosinophilia...	ORPHA:331206
Autosomal Dominant Polycystic Kidney Disease	Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru...	ORPHA:730
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Eosinophilia, Hepatosplenomegaly, Hepatitis, Decreased proportion of CD3-positive T ...	ORPHA:169160
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Mucopolysaccharidosis-Plus Syndrome	Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Leukopenia, Cho...	OMIM:617303
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly	OMIM:608971
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Abnormality of the lymph nodes, Hepatosplenomegaly, Lymphadenitis, Eosinophilia, A...	ORPHA:911
Ovarian Hyperstimulation Syndrome	Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Enlarged polycy...	ORPHA:64739
Glycogen Storage Disease Ib	Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ...	OMIM:232220
Alpha-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J...	ORPHA:846
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Renal Dysplasia	Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure...	ORPHA:93108
Multiple System Atrophy	Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,...	ORPHA:102
Isolated Splenogonadal Fusion	Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Polysple...	ORPHA:457083
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid...	ORPHA:2138
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Immunodeficiency 69	Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia	OMIM:618963
Partington Syndrome	Macroorchidism	ORPHA:94083
Familial Partial Lipodystrophy, Köbberling Type	Polycystic ovaries, Pancreatitis, Hepatic steatosis, Hepatomegaly	ORPHA:79084
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A	Hypotension, Abnormal autonomic nervous system physiology	OMIM:156310
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Eosinophilia	OMIM:618282
Epilepsy, Familial Focal, With Variable Foci 4	Attention deficit hyperactivity disorder, Abnormal autonomic nervous system physiology	OMIM:617935
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli...	ORPHA:98849
Mitchell Syndrome	Respiratory insufficiency due to muscle weakness, Abnormal autonomic nervous system physiology	OMIM:618960
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Cervix cancer, Abnormality of the gallbladder, Biliary tract neoplas...	ORPHA:2869
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M...	OMIM:614470
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Aggressive behavior, Abnormal autonomic nervous system physiology	ORPHA:329284
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Immunodeficiency 76	Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy	OMIM:619164
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation	OMIM:615361
Caribbean Parkinsonism	Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:97355
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Neurodegeneration With Brain Iron Accumulation 5	Aggressive behavior, Abnormal autonomic nervous system physiology	OMIM:300894
Romano-Ward Syndrome	Torsade de pointes, Abnormal T-wave, Abnormal autonomic nervous system physiology, Sudden cardiac...	ORPHA:101016
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology	ORPHA:3165
Insulin-Resistance Syndrome Type B	Leukopenia, Abnormal salivary gland morphology, Thrombocytopenia, Enlarged ovaries, Polycystic ov...	ORPHA:2298
Tetanus	Respiratory distress, Abnormal autonomic nervous system physiology, Tachycardia, Tachypnea, Auton...	ORPHA:3299
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty	ORPHA:2229
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
47,Xyy Syndrome	Congenital stationary night blindness, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Var...	ORPHA:8
Mccune-Albright Syndrome	Renal phosphate wasting, Renal tubular dysfunction, Precocious puberty, Pancreatitis, Elevated ci...	ORPHA:562
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Prolactin Deficiency With Obesity And Enlarged Testes	Reduced circulating prolactin concentration, Macroorchidism	OMIM:264120
Attrv122I Amyloidosis	Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomic nervous system phys...	ORPHA:85451
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, He...	OMIM:304790
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia	OMIM:618092
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased...	OMIM:615513
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat...	OMIM:616217
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Combined Saposin Deficiency	Optic atrophy, Hepatomegaly, Splenomegaly	OMIM:611721
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa...	OMIM:603552
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Kaposiform Lymphangiomatosis	Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,...	ORPHA:464329
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles...	OMIM:620010
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta...	ORPHA:731
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Cutaneous abscess, Eosinophilia	OMIM:147060
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Crackles, Tachycardia, Acute infectious pneumonia, Tachypnea, Respiratory f...	ORPHA:264675
Autism, Susceptibility To, 3	Impaired ability to form peer relationships, Increased serum serotonin, Abnormal nonverbal commun...	OMIM:608049
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Hypereosinophilia, Splenomegaly	OMIM:617388
Mu-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy	ORPHA:100024
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eosinophilia	OMIM:618523
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology, Cerebral vasculitis, Anxiety, Hypothyroidism, Hashi...	ORPHA:83601
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Estrogen Resistance Syndrome	Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ...	ORPHA:785
Rudiger Syndrome	Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Splenoportal Vascular Anomalies	Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system	OMIM:271500
Autosomal Dominant Severe Congenital Neutropenia	Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni...	ORPHA:486
Infantile Neuroaxonal Dystrophy	Hyperactivity, Abnormal autonomic nervous system physiology, Aspiration pneumonia, Apneic episode...	ORPHA:35069
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif...	OMIM:608836
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n...	OMIM:602088
Polyembryoma	Abdominal mass, Macroorchidism, Isosexual precocious puberty, Abnormality of the peritoneum	ORPHA:180229
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol...	OMIM:200995
Inherited Creutzfeldt-Jakob Disease	Apathy, Abnormal autonomic nervous system physiology, Anxiety, Akinetic mutism, Emotional labilit...	ORPHA:282166
Erythrocytosis, Familial, 8	Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C...	OMIM:222800
Recurrent Respiratory Papillomatosis	Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Tachypnea, ...	ORPHA:60032
Sandhoff Disease	Hepatomegaly, Cherry red spot of the macula, Splenomegaly	ORPHA:796
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Glycogen Storage Disease Ia	Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232200
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Hypogonadism, Anemia	OMIM:613313
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst	ORPHA:397685
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Amyloidosis, Familial Visceral	Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria	OMIM:105200
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis...	OMIM:615631
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Pulmonary hemorrhage, Decreased DLCO, Cough, Tachypnea, Restrictive ventilatory defect, Dyspnea	OMIM:616414
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Nonproductive cough, Pleural empyema, Hypotension, Acute infectious pneumon...	ORPHA:36238
Rabson-Mendenhall Syndrome	Precocious puberty, Long penis, Enlarged ovaries, Clitoral hypertrophy, Increased pineal volume	ORPHA:769
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia	OMIM:610163
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni...	ORPHA:90796
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Ovarian Fibrothecoma	Abnormal endometrium morphology, Peritonitis, Gonadal calcification, Ovarian fibroma, Ascites, Ab...	ORPHA:314478
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Galactosemia Iii	Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice	OMIM:230350
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Short stature	OMIM:615925
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, Hypoxemia, Cardiac arrest, N...	ORPHA:70587
Tyrosinemia, Type I	Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure, Hepatocellular car...	OMIM:276700
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Pure Autonomic Failure	Orthostatic hypotension, Syncope, Abnormal autonomic nervous system physiology, Abnormality of ci...	ORPHA:441
Fragile X Syndrome	Macroorchidism	ORPHA:908
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen...	ORPHA:75564
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ...	ORPHA:79301
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Immunodeficiency 49	Eosinophilia, Lymphopenia	OMIM:617237
Cryohydrocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185020
Atkin-Flaitz Syndrome	Macroorchidism	OMIM:300431
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Eosinophilic Gastroenteritis	Eosinophilia, Anemia, Ascites, Leukocytosis	ORPHA:2070
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, Macroorchidism	ORPHA:284180
H Syndrome	Histiocytosis, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Microc...	ORPHA:168569
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Narcolepsy, Increased circulating prolactin concentration, Emotional lability, Central diabetes i...	ORPHA:293987
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B...	ORPHA:261529
Fabry Disease	Angina pectoris, Airway obstruction, Abnormal autonomic nervous system physiology, Arrhythmia, My...	OMIM:301500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinop...	OMIM:102700
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation	OMIM:600546
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Igg4-Related Kidney Disease	Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu...	ORPHA:449395
Opitz Gbbb Syndrome	Bicornuate uterus, Bifid scrotum, Hypospadias, Enlarged ovaries, Shawl scrotum, Cryptorchidism	ORPHA:2745
Al Amyloidosis	Autonomic erectile dysfunction, Abnormal P wave, Abnormal autonomic nervous system physiology, Ja...	ORPHA:85443
Coronary Arterial Fistula	Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur...	ORPHA:2041
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ...	OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic...	OMIM:619658
Lymphatic Filariasis	Hydrocele testis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Epididymitis, Hyp...	ORPHA:2035
Haddad Syndrome	Failure to thrive, Central sleep apnea, Abnormal autonomic nervous system physiology, Small for g...	ORPHA:99803
Young-Onset Parkinson Disease	Apathy, Abnormal autonomic nervous system physiology, Anxiety, Panic attack, Impaired social inte...	ORPHA:2828
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest...	OMIM:617394
Aromatase Deficiency	Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto...	ORPHA:91
Motor Neuropathy, Peripheral, With Dysautonomia	Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p...	OMIM:252320
Non-Functioning Pituitary Adenoma	Abnormality of the pituitary gland, Anemia of inadequate production, Adrenocorticotropic hormone ...	ORPHA:91349
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Macroorchidism	OMIM:300055
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Neph...	OMIM:130650
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:613870
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Spondylometaphyseal Dysplasia, Axial	Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Cone/cone-rod dystrophy, Optic atrophy	OMIM:602271
Diaphanospondylodysostosis	Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast...	OMIM:608022
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Diabetes insipidus, Abnormal autonomic nervous system physiology, Diabetes mellitus	OMIM:598500
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Trisomy 20P	Hypospadias, Abnormality of the ureter, Abnormality of the kidney, Multiple renal cysts, Abnormal...	ORPHA:261318
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple...	OMIM:616860
Cyclic Neutropenia	Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Thrombocytopenia, Cycl...	ORPHA:2686
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy	ORPHA:100025
Spherocytosis, Type 1	Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:182900
Familial Exudative Vitreoretinopathy	Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor...	ORPHA:891
Endocrine-Cerebroosteodysplasia	Sex reversal, Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Ambiguous genital...	OMIM:612651
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Xp22.3 Microdeletion Syndrome	Polycystic ovaries, Hypogonadotropic hypogonadism	ORPHA:1643
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism	OMIM:613546
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ...	ORPHA:2585
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Postural hypotensio...	OMIM:256800
Alveolar Echinococcosis	Cutaneous abscess, Abnormal spleen morphology, Eosinophilia, Hepatic cysts, Liver abscess, Portal...	ORPHA:284
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti...	ORPHA:766
Autoimmune Lymphoproliferative Syndrome, Type Iii	Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD...	OMIM:615559
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count	OMIM:243700
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret...	ORPHA:1046
Central Retinal Vein Occlusion	Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati...	ORPHA:411527
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:619868
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy	OMIM:613101
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi...	OMIM:616689
Plin1-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatic steatosis, Hepatic fibrosis	ORPHA:280356
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc...	ORPHA:3261
Alexander Disease	Failure to thrive, Sleep apnea, Precocious puberty, Self-injurious behavior, Abnormal autonomic n...	ORPHA:58
Preeclampsia	Polycystic ovaries, Abnormality of the hepatic vasculature, Thrombocytopenia	ORPHA:275555
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma...	ORPHA:983
Parkinsonism-Dystonia 2, Infantile-Onset	Abnormal autonomic nervous system physiology	OMIM:618049
Immunodeficiency 64	Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ...	OMIM:618534
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal...	OMIM:305390
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Posttransplant Acute Limbic Encephalitis	Anxiety, Abnormal autonomic nervous system physiology	ORPHA:163921
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Abnormal retinal morphology on macular OCT, Macroscopic hematuria, Mem...	ORPHA:251004
Spherocytosis, Type 4	Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:612653
Leprechaunism	Hepatomegaly, Long penis, Enlarged kidney, Enlarged ovaries, Labial hypertrophy, Clitoral hypertr...	ORPHA:508
Atrial Septal Defect, Ostium Primum Type	Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal...	ORPHA:99106
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal autonomic nervous system physiology, Optic nerve hypoplasia, Delayed social development,...	ORPHA:300570
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice	OMIM:185000
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ...	ORPHA:98848
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea...	OMIM:619375
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly	OMIM:616719
Craniopharyngioma	Enlarged pituitary gland, Abnormal hypothalamus morphology, Increased circulating prolactin conce...	ORPHA:54595
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Macroorchidism	ORPHA:324410
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome...	OMIM:616828
Follicular Lymphoma	Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly	ORPHA:545
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli...	OMIM:121300
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas...	OMIM:616278
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4...	ORPHA:90790
Alternating Hemiplegia Of Childhood	Respiratory distress, Failure to thrive, Apnea, Abnormal T-wave, Abnormal autonomic nervous syste...	ORPHA:2131
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B...	OMIM:602347
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Hypogonadism	OMIM:608540
Variant Abeta2M Amyloidosis	Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology	ORPHA:314652
Central Precocious Puberty	Increased circulating gonadotropin level, Hypothalamic hamartoma	ORPHA:759
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa...	OMIM:613470
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Iris coloboma, Macroorchidism	OMIM:618874
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly	OMIM:615085
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma...	ORPHA:276280
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen...	OMIM:607594
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ...	OMIM:612840
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ...	OMIM:619849
Isolated Follicle Stimulating Hormone Deficiency	Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon...	ORPHA:52901
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic Adhesion, Agenesis of corpus callosum	OMIM:618929
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma...	ORPHA:1414
Hereditary Folate Malabsorption	Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia	ORPHA:90045
Immunodeficiency 32B	Splenomegaly	OMIM:226990
Retinal Venous Beading	Vitreous hemorrhage, Nephritis, Retinal neovascularization, Neutropenia, Retinal infarction, Abno...	OMIM:180080
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ...	OMIM:214900
Duplication Of The Pituitary Gland	Abnormality of the pituitary gland, Agenesis of corpus callosum, Abnormal hypothalamus morphology	ORPHA:314621
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Nephrotic syndrome, Abnormality of retinal pigmentation, Hepatosplenomegaly, Leukopenia, Heparan ...	ORPHA:505248
Cholesterol Pneumonia	Pneumonia, Cough, Tachypnea	OMIM:215030
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Jaundice, Cholestasis, Splenomegaly	ORPHA:172
Elliptocytosis 1	Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly	OMIM:611804
Loeffler Endocarditis	Left ventricular hypertrophy, Eosinophilia	ORPHA:75566
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Elevated circulating growth hormone concentration, Macroorchidism	ORPHA:85327
Atypical Rett Syndrome	Growth delay, Poor eye contact, Episodic tachypnea, Panic attack, Abnormal pattern of respiration...	ORPHA:3095
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C...	OMIM:300853
Igg4-Related Submandibular Gland Disease	Prostatitis, Abnormal pancreas morphology, Sialadenitis, Eosinophilia, Abnormal salivary gland mo...	ORPHA:449432
Spherocytosis, Type 2	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:616649
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss, Abnormal autonomic nervous system physiology	OMIM:605543
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th...	OMIM:209950
Porphyria Variegata	Inappropriate antidiuretic hormone secretion, Abnormal autonomic nervous system physiology, Respi...	ORPHA:79473
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin...	OMIM:133780
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Azoospermia	OMIM:602390
Pgm3-Cdg	Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese...	ORPHA:443811
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrolithiasis, Pancreatitis, Hepatomegaly, Abnormal myeloid leukocyte morphology, Increased hep...	ORPHA:79259
Congenital Fibrinogen Deficiency	Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst...	ORPHA:335
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Hepatitis, Lymphadenopathy, Lymphocytosis	ORPHA:139402
Osteopetrosis, Autosomal Dominant 3	Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Coach Syndrome 1	Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U...	OMIM:216360
Ataxia-Telangiectasia	Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Lymphopenia, Abnormal testis morphology	ORPHA:100
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis	ORPHA:2902
Narcolepsy 7	Narcolepsy, Type II diabetes mellitus	OMIM:614250
Complete Atrioventricular Septal Defect	Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third...	ORPHA:1329
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Poor eye contact, Hyperactivity, Hyperthyroidism, Anxiety, Hypothyroidis...	ORPHA:449291
Aspergillosis	Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor...	OMIM:611490
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating aldosterone level, Abnormal autonomic nervous system physiology, Short stat...	OMIM:231550
Lipodystrophy, Partial, Acquired, Susceptibility To	Polycystic ovaries	OMIM:608709
Ramos-Arroyo Syndrome	Respiratory distress, Decreased body weight, Severe short stature, Severe failure to thrive, Abno...	ORPHA:1051
Rett Syndrome	Failure to thrive, Increased serum leptin, Abnormal pattern of respiration, Abnormal autonomic ne...	ORPHA:778
Erythermalgia, Primary	Palpitations, Abnormal autonomic nervous system physiology	OMIM:133020
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Acute Lung Injury	Respiratory distress, Tachypnea, Shock, Pneumonia, Hypoxemia, Dyspnea, Diffuse alveolar hemorrhag...	ORPHA:178320
Coasy Protein-Associated Neurodegeneration	Abnormality of thalamus morphology	ORPHA:397725
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H...	ORPHA:848
Hypergonadotropic Hypogonadism And Partial Alopecia	Hypergonadotropic hypogonadism, Streak ovary	OMIM:241090
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch...	OMIM:266200
Fatal Familial Insomnia	Apnea, Weight loss, Abnormal autonomic nervous system physiology	OMIM:600072
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Beckwith-Wiedemann Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged kidney, Cardiomegaly, N...	ORPHA:116
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Neutropenia, Hemophagocytosis, Splenomegaly, Abnormal renal physiology, Prostate cancer, Hepatosp...	ORPHA:158057
Central Hypoventilation Syndrome, Congenital, 1	Apnea, Abnormal autonomic nervous system physiology, Hypoxemia, Central hypoventilation, Hypercap...	OMIM:209880
Meacham Syndrome	Blind vagina, Bicornuate uterus, Male pseudohermaphroditism, Accessory spleen, Septate vagina, En...	OMIM:608978
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, Micropenis,...	ORPHA:95699
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly	OMIM:612126
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatomegaly, Retinal degeneration, Nephronophthisis, Splenomegaly, Hepat...	OMIM:615630
Amyloidosis, Hereditary, Transthyretin-Related	Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Abnormal autonomic nervous ...	OMIM:105210
Lymphoid Interstitial Pneumonia	Mediastinal lymphadenopathy, Hepatomegaly, Enlarged kidney	ORPHA:79128
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Short stature, Delayed puberty, Postnatal growth retardation, Decreased serum insulin-like growth...	OMIM:618985
Schnitzler Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:37748
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:314050
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia	ORPHA:158029
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Eales Disease	Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh...	ORPHA:40923
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly	OMIM:613490
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B...	OMIM:301078
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia	OMIM:300635
Dysplastic Cortical Hyperostosis	Hepatomegaly, Splenomegaly	ORPHA:2204
Cholesteryl Ester Storage Disease	Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice	ORPHA:75234
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Thyro...	ORPHA:90674
Idiopathic Hypereosinophilic Syndrome	Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Cervical lymphadenopathy, Myeloproliferat...	ORPHA:3260
Leukoencephalopathy With Dystonia And Motor Neuropathy	Abnormality of thalamus morphology	OMIM:613724
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Hemochromatosis, Type 1	Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc...	OMIM:235200
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:243180
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pigmentary retin...	OMIM:614866
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ...	OMIM:278000
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Wolfram Syndrome	Abnormal autonomic nervous system physiology, Respiratory insufficiency, Central apnea, Optic atr...	ORPHA:3463
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Abnormal macular morphology, Nephropathy, Ascites	ORPHA:87876
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia	OMIM:610333
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Polycystic ovaries, Cryptorchidism, Decreased testicular size	ORPHA:3085
Lymphoproliferative Syndrome 2	Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ...	OMIM:615122
Griscelli Syndrome Type 2	Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice	ORPHA:79477
Harderoporphyria	Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol...	OMIM:618892
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas...	OMIM:194380
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Splenomegaly, Optic atrophy, Renal insufficiency, Neutropenia, Anemia...	ORPHA:79312
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Lymphopenia, Hepatic cysts	OMIM:617425
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Apnea, Hyperventilation, Abnormal autonomic nervous system physiology	OMIM:617903
Coccidioidomycosis	Pancreatitis, Peritonitis, Eosinophilia, Mediastinal lymphadenopathy, Abnormality of the male gen...	ORPHA:228123
Tremor-Ataxia-Central Hypomyelination Syndrome	Short stature, Hypogonadotropic hypogonadism, Optic atrophy, Autonomic bladder dysfunction, Delay...	ORPHA:447896
Primary Lipodystrophy	Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis	ORPHA:90970
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot...	OMIM:228300
Alg9-Cdg	Ureteral hypoplasia, Hepatomegaly, Periportal fibrosis, Bicornuate uterus, Hypoplasia of the ovar...	ORPHA:79328
Immunodeficiency 23	Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia	OMIM:615816
Babesiosis	Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Renal insufficiency, T...	ORPHA:108
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,...	OMIM:613812
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ...	OMIM:619463
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Cough, Tachypnea	OMIM:263000
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Abnormality of the urethra, Abnormality of the ovary	ORPHA:2795
Vitreoretinopathy, Neovascular Inflammatory	Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy...	OMIM:193235
Cardiac-Urogenital Syndrome	Micropenis, Bifid scrotum, Accessory spleen, Hepatopulmonary fusion, Unilateral cryptorchidism, E...	OMIM:618280
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly	OMIM:612526
Familial Isolated Restrictive Cardiomyopathy

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us