Gene Summary

Name:
tryptophan hydroxylase 2
Synonyms:
N/A

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
decreased startle reflex Tph2em1(IMPC)Mbp HET Early adult 4.77×10-05
enlarged testis Tph2em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, incomplete penetrance Tph2em1(IMPC)Mbp HOM Early adult 0.00
abnormal placenta vasculature Tph2em1(IMPC)Mbp HET E18.5 0.00
enlarged spleen Tph2em1(IMPC)Mbp HET Early adult 0.00
small liver Tph2em1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Tph2em1(IMPC)Mbp HET Early adult 0.00
increased prepulse inhibition Tph2em1(IMPC)Mbp HET   Early adult 7.86×10-05
abnormal eye morphology Tph2em1(IMPC)Mbp HET Early adult 0.00
abnormal liver morphology Tph2em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta vasculature Tph2em1(IMPC)Mbp HOM E18.5 0.00
persistence of hyaloid vascular system Tph2em1(IMPC)Mbp HET Early adult 2.58×10-08
increased eosinophil cell number Tph2em1(IMPC)Mbp HOM Early adult 4.75×10-05
abnormal placenta morphology Tph2em1(IMPC)Mbp HOM E18.5 0.00
abnormal kidney morphology Tph2em1(IMPC)Mbp HET Early adult 0.00
enlarged ovary Tph2em1(IMPC)Mbp HOM Early adult 0.00
abnormal placenta morphology Tph2em1(IMPC)Mbp HET E18.5 0.00
no spontaneous movement Tph2em1(IMPC)Mbp HET E18.5 0.00
increased brain size Tph2em1(IMPC)Mbp HET Early adult 0.00
abnormal brain morphology Tph2em1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Tph2em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Tph2em1(IMPC)Mbp HOM Early adult 5.26×10-06
abnormal skin morphology Tph2em1(IMPC)Mbp HET Early adult 0.00
abnormal ovary morphology Tph2em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Tph2em1(IMPC)Mbp HET Early adult 0.00
no spontaneous movement Tph2em1(IMPC)Mbp HOM E18.5 0.00
decreased locomotor activity Tph2em1(IMPC)Mbp HOM Early adult 4.83×10-28
abnormal retina vasculature morphology Tph2em1(IMPC)Mbp HET Early adult 4.11×10-05
abnormal spleen morphology Tph2em1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Tph2em1(IMPC)Mbp 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 Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E18.5

Embryo reconstruction

8 Images

Histopathology

Images

2 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.

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
Attention deficit hyperactivity disorder, Depression OMIM:613003

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Major Depressive Disorder
Depression OMIM:608516
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly, Gait disturbance, Ataxia, Dementia ORPHA:2274
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Autism
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:607373
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Autism, Susceptibility To, 20
Reduced social reciprocity OMIM:618830
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar... OMIM:614963
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Obesity, Hyperinsulinemia, Polyp... ORPHA:369873
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Atypical Rett Syndrome
Restrictive behavior, Episodic tachypnea, Inappropriate laughter, Bruxism, Agitation, Reduced soc... ORPHA:3095
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Trimethylaminuria
Anemia, Depression, Splenomegaly, Neutropenia OMIM:602079
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:603909
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Riboflavin Transporter Deficiency
Hypogonadism, Abnormal cranial nerve morphology, Aggressive behavior, Cachexia, Facial palsy, Dys... ORPHA:97229
Autosomal Dominant Epilepsy With Auditory Features
Depression, Abnormal autonomic nervous system physiology, Impulsivity ORPHA:101046
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligozoospermia ORPHA:3000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... OMIM:208540
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Sandhoff Disease
Progressive psychomotor deterioration, Splenomegaly, Motor deterioration, Ataxia, Hepatomegaly ORPHA:796
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Unsteady gait OMIM:618092
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Partington Syndrome
Macroorchidism, Limb dystonia ORPHA:94083
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Arrhythmia, Weight loss, Abnormal autonomic nervous syste... ORPHA:85447
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Splenic cyst, Absc... ORPHA:400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Eosinophilic liver infiltration, Hepatic cysts OMIM:618999
Roifman Syndrome
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia ORPHA:353298
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Roifman Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy OMIM:616651
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Tetanus
Respiratory distress, Autonomic bladder dysfunction, Tachypnea, Dysphagia, Abnormal autonomic ner... ORPHA:3299
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden... ORPHA:39041
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Multiple System Atrophy, Cerebellar Type
Orthostatic syncope, Depression, Neuromuscular dysphagia, Autonomic bladder dysfunction, Orthosta... ORPHA:227510
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Difficulty walking, Eosinophilia OMIM:253600
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton... ORPHA:330001
Multiple System Atrophy, Parkinsonian Type
Orthostatic syncope, Depression, Autonomic bladder dysfunction, Orthostatic hypotension due to au... ORPHA:98933
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Glut1 Deficiency Syndrome 2
Reticulocytosis, Splenomegaly, Irritability, Ataxia, Hemolytic anemia, Choreoathetosis OMIM:612126
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Gait disturbance, Abnormality of the ovary ORPHA:1875
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Resting tremor, Tremor ORPHA:3077
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste... ORPHA:101016
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Dystonia, Splenomegaly ORPHA:139406
Epilepsy, Familial Focal, With Variable Foci 4
Attention deficit hyperactivity disorder, Abnormal autonomic nervous system physiology OMIM:617935
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Meckel Syndrome, Type 8
Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Caribbean Parkinsonism
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:97355
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m... ORPHA:2585
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Chorioretinal hypopigmentation, Optic atrophy, Bon... OMIM:617303
Mitchell Syndrome
Dysphagia, Abnormal autonomic nervous system physiology OMIM:618960
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD... ORPHA:331206
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Resting tremor, Tremor, Macroorchidism, Dystonia, Choreoathetosis OMIM:300055
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T ... ORPHA:169160
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc... ORPHA:2869
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Infantile Neuroaxonal Dystrophy
Optic atrophy, Emotional lability, Abnormality of peripheral nerve conduction, Apneic episodes in... ORPHA:35069
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232220
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Increased circulating gonadotropin leve... ORPHA:8
Mccune-Albright Syndrome
Renal phosphate wasting, Precocious puberty, Bone marrow hypocellularity, Hepatitis, Increased ci... ORPHA:562
Wells Syndrome
Eosinophilia ORPHA:901
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ascites, Ovarian cyst, Enlarged polycystic ovaries, Increased circulati... ORPHA:64739
Aicardi-Goutieres Syndrome 6
Splenomegaly, Irritability, Loss of ambulation, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Leukopenia, Polycystic ovaries, Enlarged polycystic ovaries, Enlarged ovaries,... ORPHA:2298
Gaucher Disease, Type Iii
Progressive neurologic deterioration, Depression, Pancytopenia, Splenomegaly, Hepatomegaly, Throm... OMIM:231000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi... OMIM:304790
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia,... OMIM:615952
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Young-Onset Parkinson Disease
Depression, Restless legs, Agitation, Reduced social reciprocity, Abnormal autonomic nervous syst... ORPHA:2828
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Reduced social reciprocity ORPHA:329249
Beta-Propeller Protein-Associated Neurodegeneration
Aggressive behavior, Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Ataxia-Telangiectasia
Ataxia, Aplasia/Hypoplasia of the thymus, Lymphopenia, Polycystic ovaries, Gait disturbance, Cogn... ORPHA:100
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia, Growth delay, Abnormal autonomic nervous system physiology ORPHA:168593
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Tachycardia, Hypertension, A... OMIM:613870
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Cerebral vasculitis, Goiter, Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomi... ORPHA:83601
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abnormality of the lympha... ORPHA:464329
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Apnea, Abnormal autonomic nervous system physiology, Bradycardia OMIM:614498
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Ovarian Fibroma
Abnormality of the ovary, Ascites, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteri... ORPHA:314473
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Tetragametic Chimerism
Abnormal cellular immune system morphology, Clitoral hypertrophy, Bifid scrotum, Abnormality of t... ORPHA:199310
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Abdominal mass, Abnormal peritoneum morphology ORPHA:180229
Niemann-Pick Disease, Type B
Mental deterioration, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemi... OMIM:607616
Multiple System Atrophy
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:102
Opitz Gbbb Syndrome
Bifid scrotum, Short attention span, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate ... ORPHA:2745
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries ORPHA:79084
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein... OMIM:620010
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia OMIM:617388
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Alternating Hemiplegia Of Childhood
Failure to thrive, Cardiomyopathy, Abnormal T-wave, Respiratory distress, Oral-pharyngeal dysphag... ORPHA:2131
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Renal dysplasia, Elevated circulating as... OMIM:608836
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Cognitive impairment, Hepatomegaly, Jaundice ORPHA:172
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Enlarged ovaries, Increased pineal volume ORPHA:769
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g... ORPHA:785
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Tyrosinemia, Type I
Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, Elevated circulating h... OMIM:276700
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension, Abnormal autono... ORPHA:441
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Depression, Pseudobulbar paralysis, Autonomic bladder dysfunction, Orthostatic hypotension due to... OMIM:169500
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti... OMIM:200995
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Emotional lability, Reduced social reciprocity, Abnormal autonomic ... ORPHA:300570
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Inherited Creutzfeldt-Jakob Disease
Depression, Emotional lability, Irritability, Abnormal autonomic nervous system physiology, Vesti... ORPHA:282166
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Alveolar Echinococcosis
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... ORPHA:284
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Fragile X Syndrome
Macroorchidism ORPHA:908
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Posttransplant Acute Limbic Encephalitis
Depression, Abnormal autonomic nervous system physiology ORPHA:163921
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy... ORPHA:90796
Coproporphyria, Hereditary
Depression, Confusion, Splenomegaly, Hepatomegaly, Jaundice OMIM:121300
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Rett Syndrome
Growth delay, Failure to thrive, Increased serum leptin, Bruxism, Stereotypical hand wringing, Ab... ORPHA:778
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypogonadism, Splenome... OMIM:613313
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Graves Disease
Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Irritability, Po... OMIM:275000
Eosinophilic Gastroenteritis
Anemia, Eosinophilia, Leukocytosis, Ascites ORPHA:2070
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Microcytic anemia, Hepatosplenomegaly, Lymp... ORPHA:168569
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Emotional lability, Polyphag... ORPHA:293987
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Tremor, Hepatomegaly OMIM:616719
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Lethargy, Cirrhosis, Hepatomegaly OMIM:602390
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Emotional lability, Self-mutilation, Hyperact... OMIM:256800
Trisomy 20P
Abnormal localization of kidney, Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multi... ORPHA:261318
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Diabetes insipidus, Diabetes mellitus, Abnormal autonomic nervous system physiology OMIM:598500
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Hypopituitarism, Decreased response to gr... ORPHA:91349
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros... ORPHA:449395
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... OMIM:102700
Alexander Disease
Precocious puberty, Self-injurious behavior, Hypotension, Depression, Failure to thrive, Emotiona... ORPHA:58
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, Abnormality of the lymph... ORPHA:2035
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Thin skin, Recurrent hand flapping... ORPHA:449291
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Acute Generalized Exanthematous Pustulosis
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia ORPHA:293173
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,... OMIM:130650
Fatal Familial Insomnia
Apnea, Weight loss, Dysphagia, Abnormal autonomic nervous system physiology OMIM:600072
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Intention tremor OMIM:610539
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Splenomegaly, Retinal degeneration, Cone/cone-rod dystrophy, Rod-cone dystrophy OMIM:602271
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Apnea, Recurrent hand flapping, Abnormal autonomic nervous system physiology, Agitation OMIM:617903
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Al Amyloidosis
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy... ORPHA:85443
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Hepatic steatosis, Enl... ORPHA:91
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Sterile abscess OMIM:618282
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytop... ORPHA:79312
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Agenesis of corpus callosum OMIM:618929
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Macroorchidism ORPHA:324410
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... ORPHA:1046
Ovarian Fibrothecoma
Abnormality of the ovary, Ascites, Gonadal calcification, Abnormal endometrium morphology, Ovaria... ORPHA:314478
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... ORPHA:2686
Variant Abeta2M Amyloidosis
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology ORPHA:314652
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Delayed puberty... OMIM:301500
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Leprechaunism
Clitoral hypertrophy, Long penis, Overgrowth of external genitalia, Labial hypertrophy, Enlarged ... ORPHA:508
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Idiopathic Hypereosinophilic Syndrome
Memory impairment, Portal fibrosis, Cervical lymphadenopathy, Confusion, Hepatosplenomegaly, Thro... ORPHA:3260
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Irritability, Hy... ORPHA:848
Ring Chromosome Y Syndrome
Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater... ORPHA:261529
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Polycystic ovaries OMIM:608709
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Abnormal pituitary gland morphology ORPHA:314621
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Parkinson Disease 4, Autosomal Dominant
Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans... OMIM:216360
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating... OMIM:231550
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Macroorchidism, Hypospadias OMIM:618874
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Abno... ORPHA:95699
Wolman Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure OMIM:620151
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothalamus morphology,... ORPHA:54595
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p... ORPHA:90790
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Aspergillosis
Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Macular dystrophy, Membranoproliferative glomerulonephrit... ORPHA:251004
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 23
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Ataxia, Hemolytic anemia OMIM:615816
Sialidosis Type 2
Nephropathy, Abnormal macular morphology, Ascites, Splenomegaly, Tremor, Hepatomegaly ORPHA:87876
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... ORPHA:52901
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Hepatitis, Lymphadenopathy ORPHA:139402
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Bone marrow hypocellularity, Heparan sulfate excretion in urine, Hepatosplenomegal... ORPHA:505248
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Pituitary adenoma, Hepatitis, Macrocytic anemia, Lethargy, Adrenocorticotropic... ORPHA:199299
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachypnea, Bradycardia, Tachycardia, Cardiac arrest, Nasal flaring ORPHA:70587
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Loeffler Endocarditis
Eosinophilia, Left ventricular hypertrophy ORPHA:75566
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Autonomic bladder dysfunction, Hypogonadotropic hypogonadism, Delayed puberty, Sho... ORPHA:447896
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran... OMIM:602347
Gaucher Disease Type 2
Hepatomegaly, Dystonia, Splenomegaly ORPHA:77260
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno... OMIM:610333
Babesiosis
Depression, Confusion, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemoly... ORPHA:108
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Episodic tachypnea, Apnea, Emotional lability, Motor stereotypy, Optic disc pallor, T... ORPHA:79264
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Absent testis, Male ... ORPHA:983
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Stage 5 chronic kidney disease, Hepatic ... ORPHA:79259
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Coccidioidomycosis
Granuloma, Abnormality of the male genitalia, Abnormality of the spleen, Abnormality of the liver... ORPHA:228123
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Igg4-Related Pachymeningitis
Mental deterioration, Lymphadenitis, Parotitis, Confusion, Eosinophilia, Pancreatitis ORPHA:449427
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo... OMIM:615234
Wolfram Syndrome
Optic atrophy, Gastrointestinal hemorrhage, Male hypogonadism, Polydipsia, Cardiomyopathy, Hypogo... ORPHA:3463
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Depression, Hypothyroidism, Dysphagia, Abnormal autonomic nervous system physiology,... ORPHA:93256
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Holocarboxylase Synthetase Deficiency
Respiratory distress, Irritability, Tachypnea, Weight loss, Anorexia, Growth delay ORPHA:79242
Choreoacanthocytosis
Self-injurious behavior, Phonic tics, Depression, Dilated cardiomyopathy, Head-banging, Decreased... ORPHA:2388
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Pigmented Nodular Adrenocortical Disease, Primary, 2
Mental deterioration, Depression, Emotional lability, Ovarian cyst, Pancreatitis OMIM:610475
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis... ORPHA:276280
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Inability to walk, Microcytic anemia, Ascites, Bone-marrow foam cells, Sp... OMIM:257200
Ramos-Arroyo Syndrome
Severe short stature, Respiratory distress, Self-mutilation, Decreased body weight, Severe failur... ORPHA:1051
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Joubert Syndrome 33
Splenomegaly, Ataxia OMIM:617767
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Decreased proportion of CD4-positive helper... OMIM:243700
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Hypospa... OMIM:612651
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur... ORPHA:335
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ... ORPHA:116
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy OMIM:620282
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Cowden Syndrome
Abnormal penis morphology, Ataxia, Abnormality of the uterus, Goiter, Endometrial carcinoma, Enla... ORPHA:201
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom... OMIM:615630
Cardiomyopathy, Dilated, 2H
Reduced left ventricular ejection fraction, Tachypnea OMIM:620203
Haddad Syndrome
Aganglionic megacolon, Small for gestational age, Failure to thrive, Abnormal autonomic nervous s... ORPHA:99803
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Hepatic cysts, Abnormal renal artery morphology, ... ORPHA:79328
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Hepatopulmonary fusion, Aplasia of the uterus, P... OMIM:618280
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Tachypnea, Failure to thrive, Decreased body weight OMIM:620085
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Emotional lability, Splenomegaly, Irritability, Lethargy... OMIM:201100
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Goiter, Prolonged neonatal jaundice, Pituitary hyp... ORPHA:90674
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Meacham Syndrome
Accessory spleen, Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bic... OMIM:608978
Congenital Disorder Of Glycosylation, Type Iij
Splenomegaly, Irritability, Cirrhosis, Ataxia, Hepatomegaly OMIM:613489
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Angiostrongyliasis
Hypereosinophilia, Irritability ORPHA:74
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:613490
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Neurodegeneration With Brain Iron Accumulation 5
Aggressive behavior, Abnormal autonomic nervous system physiology OMIM:300894
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Growth delay, Abnormal autonomic nervous system physiology ORPHA:466934
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Depression, Increased circulating cor... OMIM:610489
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Netherton Syndrome
Hypereosinophilia OMIM:256500
Fetal Cytomegalovirus Syndrome
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatitis, Chorioretiniti... ORPHA:294
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Hepatic failure, Increased hepa... OMIM:278000
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:615085
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:3085
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:617542
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Ascites, Azoospermia, Splenomegaly, Card... OMIM:235200
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Amyloidosis, Hereditary Systemic 1
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... OMIM:105210
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Hepatic cysts OMIM:617425
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Stuve-Wiedemann Syndrome 1
Intrauterine growth retardation, Apnea, Pulmonary arterial hypertension, Abnormal autonomic nervo... OMIM:601559
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Porphyria Variegata
Tachycardia, Inappropriate antidiuretic hormone secretion, Hypertension, Abnormal autonomic nervo... ORPHA:79473
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Ataxia, Hepatomegaly ORPHA:391
Recurrent Respiratory Papillomatosis
Failure to thrive, Respiratory distress, Tachypnea, Syncope, Choking episodes, Dysphagia ORPHA:60032
Primary Erythromelalgia
Hypothermia ORPHA:90026
Incontinentia Pigmenti
Supernumerary nipple, Eosinophilia, Attention deficit hyperactivity disorder, Gait disturbance, C... ORPHA:464
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Gait disturbance ORPHA:183
Alexander Disease Type Ii
Dysphagia, Abnormal autonomic nervous system physiology ORPHA:363722
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ... ORPHA:231222
Parkinson Disease, Late-Onset
Depression, Dysphagia, Abnormal autonomic nervous system physiology OMIM:168600
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Intercostal retractions, Righ... ORPHA:1329
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Renal Nutcracker Syndrome
Syncope, Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Tach... ORPHA:71273
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon... OMIM:618892
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Tachypnea OMIM:616414
Serotonin Syndrome
Hypotension, Abnormality of the autonomic nervous system, Irritability, Tachypnea, Tachycardia, R... ORPHA:43116
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Re... OMIM:603903
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Machado-Joseph Disease
Dysphagia, Abnormal autonomic nervous system physiology OMIM:109150
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachycardia, Tachypnea ORPHA:264675
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly, Irritability OMIM:228000
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir... ORPHA:85212
Sea-Blue Histiocytosis