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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
no spontaneous movement	Tph2^em1(IMPC)Mbp	HET	E18.5	0.00
abnormal placenta morphology	Tph2^em1(IMPC)Mbp	HET	E18.5	0.00
decreased exploration in new environment	Tph2^em1(IMPC)Mbp	HOM	Early adult	5.26×10^-06
abnormal spleen morphology	Tph2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged kidney	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
no spontaneous movement	Tph2^em1(IMPC)Mbp	HOM	E18.5	0.00
enlarged spleen	Tph2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina vasculature morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	5.06×10^-07
abnormal spleen morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal brain morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
decreased locomotor activity	Tph2^em1(IMPC)Mbp	HOM	Early adult	4.09×10^-28
abnormal ovary morphology	Tph2^em1(IMPC)Mbp	HOM	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
small liver	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta vasculature	Tph2^em1(IMPC)Mbp	HET	E18.5	0.00
enlarged spleen	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
increased prepulse inhibition	Tph2^em1(IMPC)Mbp	HET	Early adult	7.64×10^-05
preweaning lethality, incomplete penetrance	Tph2^em1(IMPC)Mbp	HOM	Early adult	0.00
persistence of hyaloid vascular system	Tph2^em1(IMPC)Mbp	HET	Early adult	1.46×10^-07
abnormal placenta vasculature	Tph2^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal placenta morphology	Tph2^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal liver morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged ovary	Tph2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
increased eosinophil cell number	Tph2^em1(IMPC)Mbp	HOM	Early adult	4.75×10^-05
abnormal kidney morphology	Tph2^em1(IMPC)Mbp	HET	Early adult	0.00
decreased startle reflex	Tph2^em1(IMPC)Mbp	HET	Early adult	4.77×10^-05

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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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Histopathology

Images

2 Images

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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 (839 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		Attention deficit hyperactivity disorder, Depression	OMIM:613003

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

Disease	Matching phenotypes	Source
Major Depressive Disorder	Depression	OMIM:608516
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Ataxia, Splenomegaly, Dementia, Gait disturbance	ORPHA:2274
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Autism	Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Increased ser...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Increased ser...	OMIM:607373
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Eosinophilia, Neutropenia	OMIM:257100
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Kimura Disease	Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia	ORPHA:482
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Obesity Due To Sim1 Deficiency	Short stature, Hyperinsulinemia, Obesity, Abnormal autonomic nervous system physiology, Attention...	ORPHA:369873
Immunodeficiency 88	Eosinophilia	OMIM:619630
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ...	OMIM:614963
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Tach...	ORPHA:45452
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Cachexia, Aggressive behavior, Respiratory insufficiency, Hypert...	ORPHA:97229
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Persistent Idiopathic Facial Pain	Abnormal autonomic nervous system physiology, Depression	ORPHA:398147
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Trimethylaminuria	Splenomegaly, Depression, Anemia, Neutropenia	OMIM:602079
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology, Impulsivity, Depression	ORPHA:101046
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert...	OMIM:208540
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Dystonia 30	Hypothalamic hamartoma	OMIM:619291
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size, Gait disturbance	ORPHA:1875
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Sandhoff Disease	Hepatomegaly, Ataxia, Splenomegaly, Progressive psychomotor deterioration, Motor deterioration	ORPHA:796
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Partington Syndrome	Macroorchidism, Limb dystonia	ORPHA:94083
Attrv30M Amyloidosis	Atrioventricular block, Weight loss, Cardiomyopathy, Abnormal autonomic nervous system physiology...	ORPHA:85447
Multiple System Atrophy, Parkinsonian Type	Raynaud phenomenon, Depression, Stridor, Orthostatic syncope, Abnormal autonomic nervous system p...	ORPHA:98933
Multiple System Atrophy, Cerebellar Type	Raynaud phenomenon, Neuromuscular dysphagia, Depression, Stridor, Orthostatic syncope, Abnormal a...	ORPHA:227510
Mitchell Syndrome	Respiratory insufficiency due to muscle weakness, Abnormal autonomic nervous system physiology, D...	OMIM:618960
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Unsteady gait, Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Pleural effusion, Bra...	ORPHA:330001
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes...	ORPHA:400
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Hepatic cysts, Hepatosplenomegaly	OMIM:618999
Roifman Syndrome	Eosinophilia, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Roifman Syndrome	Splenomegaly, Hepatomegaly, Eosinophilia, Lymphadenopathy	OMIM:616651
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr...	ORPHA:91348
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Tetanus	Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia, Abnormal autonomic nervo...	ORPHA:3299
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cardiac arrest, Growth delay, Abnormal autonomic nervous system physiology, Arrhythmia, Abnormal ...	ORPHA:168593
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Difficulty walking	OMIM:253600
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Resting tremor, Tremor	ORPHA:3077
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Irritability	OMIM:612126
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Polycystic ovaries	ORPHA:488191
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Dystonia	ORPHA:139406
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
47,Xyy Syndrome	Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin...	ORPHA:8
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder	OMIM:617935
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Optic atrophy, Leukopenia, Chorioretin...	OMIM:617303
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U...	ORPHA:2585
Infantile Neuroaxonal Dystrophy	Hyperactivity, Impulsivity, Optic atrophy, Apneic episodes in infancy, Abnormal autonomic nervous...	ORPHA:35069
Multiple System Atrophy	Raynaud phenomenon, Stridor, Orthostatic syncope, Abnormal autonomic nervous system physiology, A...	ORPHA:102
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Loss of ambulation, Thrombocytopenia	OMIM:615010
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho...	ORPHA:169160
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Tremor, Choreoathetosis, Dystonia, Macroorchidism, Male hypogonadism	OMIM:300055
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T...	ORPHA:101016
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor...	ORPHA:562
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Meckel Syndrome, Type 8	Ambiguous genitalia, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613885
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th...	ORPHA:2869
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys...	ORPHA:85451
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Progressive neurologic deterioration, Splenomegaly, Depressio...	OMIM:231000
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ...	ORPHA:264675
Polyembryoma	Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Irregular menstruat...	ORPHA:180229
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Enlarged polycystic ovaries, Biliary cirrhosis, Polycystic ovaries, Leukopenia,...	ORPHA:2298
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior	ORPHA:329284
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Depression, Agitation, Abnormal autonomic nervous system physiology, ...	ORPHA:2828
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst...	ORPHA:464329
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Ataxia-Telangiectasia	Ataxia, Abnormal testis morphology, Polycystic ovaries, Gait disturbance, Cognitive impairment, L...	ORPHA:100
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Aganglionic megacolon, Hypertension, Agitation, Abnormal autonomic nervous system ph...	OMIM:613870
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p...	OMIM:304790
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Abnormal autonomic nervous system physiology, Apnea, Bradycardia	OMIM:614498
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess	OMIM:147060
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the...	ORPHA:314473
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Wells Syndrome	Eosinophilia	ORPHA:901
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:79084
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia,...	ORPHA:2131
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Men...	OMIM:607616
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO, Pulmonary hemorrhage	OMIM:616414
Opitz Gbbb Syndrome	Bifid scrotum, Short attention span, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate ut...	ORPHA:2745
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Hypereosinophilia	OMIM:617388
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys...	OMIM:608836
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Short stature	OMIM:615925
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Nonproductive cough, Dyspnea, Jaw claudication, Weight...	ORPHA:85443
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,...	ORPHA:70587
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, T...	ORPHA:36238
Rett Syndrome	Agitation, Abnormal autonomic nervous system physiology, Increased serum leptin, Failure to thriv...	ORPHA:778
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R...	OMIM:602271
Rabson-Mendenhall Syndrome	Enlarged ovaries, Precocious puberty, Long penis, Increased pineal volume, Clitoral hypertrophy	ORPHA:769
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, N...	OMIM:232200
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Coproporphyria, Hereditary	Hepatomegaly, Confusion, Splenomegaly, Jaundice, Depression	OMIM:121300
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome...	OMIM:276700
Fragile X Syndrome	Macroorchidism	ORPHA:908
Pure Autonomic Failure	Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level, Abnormal autono...	ORPHA:441
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Alexander Disease	Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Respiratory insufficie...	ORPHA:58
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
H Syndrome	Abnormality of the kidney, Microcytic anemia, Amenorrhea, Lymphadenopathy, Hepatosplenomegaly, Az...	ORPHA:168569
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Cognitive impairment	ORPHA:172
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Depression, Pseudobulbar paralysis, Autonomic bladder dysfunction, Autonomic erectile dysfunction...	OMIM:169500
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Inherited Creutzfeldt-Jakob Disease	Depression, Irritability, Abnormal autonomic nervous system physiology, Emotional lability, Vesti...	ORPHA:282166
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation	OMIM:600546
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Postnatal growth retardation, Delayed early-childhood social milestone de...	ORPHA:300570
Atypical Rett Syndrome	Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tongue thrusting, Growth delay, ...	ORPHA:3095
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype...	OMIM:301500
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis...	OMIM:613313
Posttransplant Acute Limbic Encephalitis	Abnormal autonomic nervous system physiology, Depression	ORPHA:163921
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Apnea, Agitation, Abnormal autonomic nervous system physiology, Bruxism, Recurrent hand flapping,...	OMIM:617903
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis, Lethargy	OMIM:602390
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla...	ORPHA:785
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Alveolar Echinococcosis	Liver abscess, Ataxia, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic ...	ORPHA:284
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus	OMIM:268650
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Diabetes mellitus, Diabetes insipidus, Abnormal autonomic nervous system physiology	OMIM:598500
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Eosinophilic Gastroenteritis	Leukocytosis, Ascites, Eosinophilia, Anemia	ORPHA:2070
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Abnormal autonomic nervous system physiology, Emotional lability, Postural hypoten...	OMIM:256800
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Depression, Abnormal autonomic nervous system physiology, Hypothyroidism, Ha...	ORPHA:83601
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Hyperthyroidism, Diabetes mellitus, Shyness, Aggressive behavior, Hypothyroidism, ...	ORPHA:449291
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Intention tremor	OMIM:610539
Parkinsonism-Dystonia 2, Infantile-Onset	Abnormal autonomic nervous system physiology	OMIM:618049
Haddad Syndrome	Aganglionic megacolon, Small for gestational age, Central hypoventilation, Breathing dysregulatio...	ORPHA:99803
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Fatal Familial Insomnia	Weight loss, Apnea, Abnormal autonomic nervous system physiology, Dysphagia	OMIM:600072
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism	ORPHA:397685
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxia, Abnormal CD4...	ORPHA:443811
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti...	ORPHA:2686
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism, Cardiomegaly	ORPHA:324410
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Eosinophilia, Cutaneous abscess	OMIM:618282
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Variant Abeta2M Amyloidosis	Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology	ORPHA:314652
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Dystonia, Splenomegaly, Thrombocytopenia, Optic atrophy, Chore...	ORPHA:79312
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab...	ORPHA:314478
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Decreased circulating cortisol level, Short stature, Optic atrophy, Adre...	OMIM:231550
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,...	ORPHA:508
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum	OMIM:618929
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Polycystic ovaries	OMIM:608709
Aromatase Deficiency	Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto...	ORPHA:91
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Dystonia, Portal hypertension, Un...	OMIM:216360
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Iris coloboma	OMIM:618874
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Confusion, Thrombocytopenia...	ORPHA:3260
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosum	ORPHA:314621
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal retinal morphology on macular OCT...	ORPHA:251004
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Cardiomyopathy, Dilated, 2H	Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Preeclampsia	Thrombocytopenia, Abnormality of the hepatic vasculature, Polycystic ovaries	ORPHA:275555
Craniopharyngioma	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ...	ORPHA:54595
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Epididymitis, Va...	ORPHA:2035
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa...	ORPHA:95699
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Central Precocious Puberty In Male	Pituitary microadenoma, Hypothalamic hamartoma	ORPHA:649929
Wolfram Syndrome	Gastrointestinal hemorrhage, Central apnea, Diabetes mellitus, Optic atrophy, Respiratory insuffi...	ORPHA:3463
Sialidosis Type 2	Hepatomegaly, Tremor, Splenomegaly, Nephropathy, Ascites, Abnormal macular morphology	ORPHA:87876
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Thrombocyto...	ORPHA:505248
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Tachycardia, Apnea, Episodic tachypnea, Depression, Aspiration pneumonia, Dysp...	ORPHA:79264
Erythermalgia, Primary	Abnormal autonomic nervous system physiology, Palpitations	OMIM:133020
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries	ORPHA:280356
Aspergillosis	Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Chronic neutropenia, Irregular menstruation, Hepatocellular adenoma, E...	ORPHA:79259
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency 23	Hemolytic anemia, Ataxia, Eosinophilia, Abscess, Neutropenia, Lymphopenia	OMIM:615816
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Polycystic ovaries	ORPHA:1643
Tremor-Ataxia-Central Hypomyelination Syndrome	Hypogonadotropic hypogonadism, Short stature, Optic atrophy, Autonomic bladder dysfunction, Dysph...	ORPHA:447896
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Loeffler Endocarditis	Left ventricular hypertrophy, Eosinophilia	ORPHA:75566
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom...	OMIM:235200
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno...	ORPHA:199299
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu...	ORPHA:1329
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Macroorchidism,...	ORPHA:90790
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dyst...	OMIM:610333
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia	ORPHA:2902
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula...	OMIM:610978
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Apnea, Central hypoventilation, Decreased heart rate variability, Hypercapnia, A...	OMIM:209880
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney	OMIM:618188
Acute Lung Injury	Shock, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Hypoxemi...	ORPHA:178320
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Igg4-Related Pachymeningitis	Confusion, Eosinophilia, Lymphadenitis, Mental deterioration, Pancreatitis, Parotitis	ORPHA:449427
Fragile X-Associated Tremor/Ataxia Syndrome	Depression, Hypertension, Abnormal autonomic nervous system physiology, Compulsive behaviors, Dys...	ORPHA:93256
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract...	OMIM:616501
Babesiosis	Hemolytic anemia, Hepatomegaly, Confusion, Splenomegaly, Jaundice, Depression, Leukopenia, Thromb...	ORPHA:108
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Coccidioidomycosis	Abnormal sperm morphology, Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphade...	ORPHA:228123
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology	ORPHA:397725
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Inability to walk, Lymphad...	OMIM:257200
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma...	ORPHA:276280
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal pancreas morphology, E...	ORPHA:449432
Holocarboxylase Synthetase Deficiency	Respiratory distress, Anorexia, Tachypnea, Weight loss, Growth delay, Irritability	ORPHA:79242
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Ramos-Arroyo Syndrome	Respiratory distress, Severe short stature, Aganglionic megacolon, Abnormal autonomic nervous sys...	ORPHA:1051
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:243180
Joubert Syndrome 33	Splenomegaly, Ataxia	OMIM:617767
Pigmented Nodular Adrenocortical Disease, Primary, 2	Depression, Ovarian cyst, Mental deterioration, Emotional lability, Pancreatitis	OMIM:610475
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi...	ORPHA:2388
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Hepatoblastoma, Polycythe...	ORPHA:116
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Ataxia, Enlarged polycystic ovaries, Adenoma se...	ORPHA:201
Porphyria Variegata	Tachycardia, Hypertension, Respiratory paralysis, Abnormal autonomic nervous system physiology, I...	ORPHA:79473
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Micropenis, Decreased te...	ORPHA:335
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Postnatal g...	ORPHA:75249
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen...	ORPHA:158057
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Tachypnea, Polyphagia, Decreased body weight	OMIM:620085
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Torticollis, Hepatic cysts, Ureteral hypoplasia, Peripor...	ORPHA:79328
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Decreased nerve conduction velocity, Tachypnea, Respiratory failure, I...	OMIM:604320
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Ataxia, Splenomegaly, Irritability, Cirrhosis	OMIM:613489
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology, Aggressive behavior	OMIM:300894
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Angiostrongyliasis	Irritability, Hypereosinophilia	ORPHA:74
Isolated Thyroid-Stimulating Hormone Deficiency	Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Thyroid hypoplasia, Increa...	ORPHA:90674
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni...	OMIM:603903
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Growth delay, Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:466934
Stuve-Wiedemann Syndrome 1	Apnea, Short stature, Respiratory insufficiency, Thin skin, Abnormal autonomic nervous system phy...	OMIM:601559
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hypertension, Agitation, Bradycardia, Hypotension, Dysphagia, As...	ORPHA:94093
Parkinson Disease, Late-Onset	Abnormal autonomic nervous system physiology, Dysphagia, Depression	OMIM:168600
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
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
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Respiratory fai...	ORPHA:542323
Igg4-Related Aortitis	Hypereosinophilia	ORPHA:449400
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts	OMIM:617425
Meacham Syndrome	Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic...	OMIM:608978
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Cough	OMIM:614575
Primary Erythromelalgia	Hypothermia	ORPHA:90026
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Splenomegaly, Emotional lability, Irritability, Hypogonadism, Lethargy, Dec...	OMIM:201100
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto...	OMIM:105210
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Alexander Disease Type Ii	Abnormal autonomic nervous system physiology, Dysphagia	ORPHA:363722
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidi...	OMIM:618280
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric...	OMIM:300770
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Small for gestational age, Cardiac shunt, Maternal diabetes, Congestive heart failur...	ORPHA:860
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Abnormal autonomic nervous system phy...	ORPHA:71273
Incontinentia Pigmenti	Eosinophilia, Supernumerary nipple, Gait disturbance, Cognitive impairment, Attention deficit hyp...	ORPHA:464
Eosinophilic Granulomatosis With Polyangiitis	Gait disturbance, Eosinophilia	ORPHA:183
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Serotonin Syndrome	Restlessness, Tachycardia, Tachypnea, Irritability, Hypertension, Agitation, Hypotension, Abnorma...	ORPHA:43116
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cryptorchidism, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:3085
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven...	ORPHA:2257
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Congestive heart failure, Nonproductive cough,...	ORPHA:454836
Machado-Joseph Disease	Abnormal autonomic nervous system physiology, Dysphagia	OMIM:109150
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous...	OMIM:608800
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ...	OMIM:228300
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis, Irritability	OMIM:228000
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ...	ORPHA:85212
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr...	ORPHA:158029
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Inability to walk, Hypereosinophilia,...	ORPHA:508533
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Lateral ventricle dilatation	ORPHA:2822
Nmda Receptor Encephalitis	Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Hypersexuality, Depress...	ORPHA:217253
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Respiratory distress, Tachycardia, Small for gestational age, Episodic tac...	ORPHA:26793
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothalamic hamartoma	OMIM:619908
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Optic disc pallor, Reticulocytosis, Splenomegaly, Optic atrophy, Anemia, Thrombocyt...	OMIM:611490
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Urinary incontinence, Cardiomegaly, Hepatosplenomegal...	OMIM:268800
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal autonomic nervous system physiology, Bruxism, Intrauterine growth retardation, Pleural e...	ORPHA:453499
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Retinal hamartoma, ...	ORPHA:744
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Hypertension, Respi...	ORPHA:79126
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Griscelli Syndrome	Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa...	ORPHA:381
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f...	OMIM:614299
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of liv...	ORPHA:247691
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism	OMIM:613546
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormal autonomic nervous system p...	ORPHA:99027
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis	ORPHA:2348
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short stature, Small for gestational age, Postnatal growth retardation, Tachypnea, Hypertension, ...	OMIM:613320
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Late-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Postnatal growth retardation, Abnormal circulating corticosterone level,...	ORPHA:556037
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Ogden Syndrome	Global glomerulosclerosis, Torticollis, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice,...	OMIM:300855
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Caribbean Parkinsonism	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction	ORPHA:97355
Niemann-Pick Disease, Type C1	Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Gait ataxia, Dementia,...	OMIM:257220
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney	OMIM:252500
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:616683
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina...	OMIM:306955
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Wilson Disease	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Depression, Cirrhosis, Difficu...	ORPHA:905
Joubert Syndrome 7	Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:611560
Incontinentia Pigmenti	Eosinophilia, Supernumerary nipple, Leukocytosis, Breast aplasia, Hypoplastic nipples, Breast hyp...	OMIM:308300
Early-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Postnatal growth retardation, Abnormal circulating corticosterone level,...	ORPHA:556030
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis	ORPHA:79083
Carney Complex	Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnorma...	ORPHA:1359
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Aplasia of the uterus, ...	OMIM:274000
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:435651
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit...	ORPHA:449563
Distal Deletion 10P	Cryptorchidism, Hypoplasia of penis, Polycystic ovaries	ORPHA:1580
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me...	ORPHA:91138
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Bangstad Syndrome	Abnormality of the parathyroid gland, Abnormal testis morphology, Ataxia, Polycystic ovaries	ORPHA:1227
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil...	ORPHA:90068
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Tick-Borne Encephalitis	Facial palsy, Anorexia, Depression, Abnormal glossopharyngeal nerve morphology, Abnormal autonomi...	ORPHA:297
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Idiopathic Congenital Hypothyroidism	Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr...	ORPHA:95717
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Unilateral renal hypoplasia, Precocious puberty, Macroorchidism, Dystonia	OMIM:619950
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec...	OMIM:618935
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Reti...	ORPHA:500095
Donohue Syndrome	Precocious puberty, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cel...	OMIM:246200
Propionic Acidemia	Short stature, Apnea, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Failure to thrive	OMIM:606054
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon...	ORPHA:217563
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Thrombocy...	OMIM:606003
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Riboflavin Deficiency	Hypothermia	OMIM:615026
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries...	ORPHA:528
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lym...	ORPHA:1655
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Sudden cardiac death, Tachypnea, Reduced left ventricular ejection fraction, Respiratory arrest, ...	OMIM:201475
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Short stature, Tachypnea, Heart murmur, Pulmonic stenosis, Aplas...	ORPHA:3426
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi...	ORPHA:264580
Amoebiasis Due To Free-Living Amoebae	Abnormal hypothalamus morphology	ORPHA:68
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Pulmonary arterial hypertension, Failure to thrive, Tachypnea	OMIM:614857
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:261534
Aspartylglucosaminuria	Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism	ORPHA:93
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries	ORPHA:435660
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He...	OMIM:235555
Methionine Malabsorption Syndrome	Tachypnea	OMIM:250900
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Facial palsy	ORPHA:2483
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries	ORPHA:2795
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Dysphagia	ORPHA:247234
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Hypothalamic hamartoma	OMIM:241800
Pyruvate Dehydrogenase Deficiency	Growth delay, Intrauterine growth retardation, Tachypnea, Dyspnea	ORPHA:765
Porphyria Due To Ala Dehydratase Deficiency	Abnormal fear-induced behavior, Agitation, Restlessness, Depression	ORPHA:100924
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial...	OMIM:265120
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Narcolepsy 7	Narcolepsy, Type II diabetes mellitus	OMIM:614250
Cardiocranial Syndrome, Pfeiffer Type	Growth delay, Intrauterine growth retardation, Short stature, Episodic tachypnea	ORPHA:2872
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Primary Sclerosing Cholangitis	Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell...	ORPHA:171
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Cirrhosis, Polycystic ovaries	OMIM:604367
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ovaries, Hepatic fibrosis, Cirrhos...	ORPHA:79240
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia...	ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia	OMIM:610006
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary	ORPHA:247768
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy, Optic atrophy, Type II diabetes mellitus, Depression	OMIM:604121
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo...	ORPHA:90793
Wilson Disease	Acute hepatic failure, Tremor, Hand tremor, Aminoaciduria, Limb dystonia, Hepatic steatosis, Hypo...	OMIM:277900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D...	OMIM:610921
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Splenome...	ORPHA:251066
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:230800
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic...	OMIM:312870
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Cryptorchidism, Exaggerated startle response, Hydronephrosis	OMIM:620327
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Irritability, ...	OMIM:267700
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly,...	OMIM:603553
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Failure to thrive, Respiratory failure, Tachypnea, Optic disc pallor	OMIM:615838
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Thrombo...	OMIM:214500
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Sple...	OMIM:615512
Niemann-Pick Disease Type C	Aggressive behavior, Narcolepsy, Respiratory insufficiency, Depression, Respiratory failure, Disi...	ORPHA:646
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophilia, Portal hypertension, Abnormal reproducti...	ORPHA:797
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism	OMIM:208400
Parkinsonian-Pyramidal Syndrome	Abnormal autonomic nervous system physiology, Dysphagia	ORPHA:171695
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ir...	ORPHA:348
Beta-Ketothiolase Deficiency	Anorexia, Tachypnea, Weight loss, Hypertension, Agitation, Hypotension, Cough, Oral aversion	ORPHA:134
Macrophage Activation Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr...	ORPHA:158061
Stüve-Wiedemann Syndrome	Respiratory distress, Short stature, Apnea, Asthma, Abnormal autonomic nervous system physiology,...	ORPHA:3206
Combined Oxidative Phosphorylation Defect Type 29	Abnormal autonomic nervous system physiology, Optic neuropathy	ORPHA:478029
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Aortic Arch Interruption	Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa...	ORPHA:2299
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Niemann-Pick Disease, Type C2	Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dementia, Se...	OMIM:607625
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Tachypnea, Hypoxemia...	ORPHA:555874
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Tubulinopathy-Associated Dysgyria	Abnormal thalamus morphology	ORPHA:467166
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein...	ORPHA:90797
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Hypergonadotropic hypogonadism, Polycystic ovaries	OMIM:268020
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Iron deficiency anemia, Ova...	OMIM:175200
Cowden Syndrome 1	Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Lymphopenia, Varicocele, Goiter	OMIM:158350
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Joubert Syndrome 9	Apnea, Episodic tachypnea	OMIM:612285
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Macular atrophy, Microvesicular hepatic steatosis, Splenomegaly, ...	OMIM:619418
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Hematuria...	ORPHA:77259
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Abnormal thalamus morphology	ORPHA:557003
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Hyperparathyroidism, Neonatal Severe	Dyspnea, Tachypnea, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, ...	OMIM:239200
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea, Dysphagia	ORPHA:163961
Acute Transverse Myelitis	Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal autonomic nervous system...	ORPHA:139417
Cholera	Tachycardia, Tachypnea, Irritability, Hypovolemic shock, Hypotension, Aspiration pneumonia, Hyper...	ORPHA:173
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Small for gestational age, Episodic tachypnea	OMIM:615160
Tay-Sachs Disease	Exaggerated startle response, Precocious puberty, Tremor, Optic atrophy, Hepatosplenomegaly, Dyst...	ORPHA:845
Malignant Hyperthermia Of Anesthesia	Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular tachycardia, Premature ...	ORPHA:423
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
African Trypanosomiasis	Abnormal EKG, Pericarditis, Papilledema, Aggressive behavior, Abnormality of the endocrine system...	ORPHA:3385
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma	OMIM:617100
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Glycogen Storage Disease Of Heart, Lethal Congenital	Ascites, Enlarged kidney, Cardiomegaly	OMIM:261740
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Panhypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95513
Bardet-Biedl Syndrome 1	Decreased testicular size, Ataxia, Biliary tract abnormality, Hepatic fibrosis, Hypogonadism, Vag...	OMIM:209900
Estrogen Resistance	Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries	OMIM:615363
Citrullinemia Type I	Failure to thrive, Tachypnea	ORPHA:247525
Adenohypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95512
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal...	ORPHA:90795
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:99330
Joubert Syndrome 3	Central apnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:608629
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr...	ORPHA:226313
Congenital Factor Vii Deficiency	Ovarian cyst	ORPHA:327
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul...	ORPHA:309854
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul...	OMIM:300972
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Dystonia, ...	ORPHA:79255
Familial Thyroid Dyshormonogenesis	Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr...	ORPHA:95716
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Remnants of the hyaloid vascular system, Protein...	OMIM:609049
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea,...	ORPHA:60025
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Abnormality of the diencephalon	ORPHA:2570
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries	ORPHA:1770
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Narcolepsy 3	Narcolepsy	OMIM:609039
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Optic atrophy	OMIM:609541
Bacterial Toxic-Shock Syndrome	Shock, Respiratory distress, Tachycardia, Sinusitis, Pneumonia, Myocarditis, Tachypnea, Capillary...	ORPHA:36234
Rh Deficiency Syndrome	Hypoxemia, Intrauterine growth retardation, Tachycardia, Tachypnea	ORPHA:71275
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon	ORPHA:2165
Cushing Disease	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Leukocytosis, Depression, Memory impai...	ORPHA:96253
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, He...	ORPHA:158048
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis	OMIM:207750
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Cardiac arrest, Anorexia, Dilated cardiomyopathy, Tachypnea, Weight loss, Hypotension	ORPHA:20
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Intermittent thrombocytopenia, Splenomegaly, Er...	OMIM:612541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy	ORPHA:320406
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cardiomegaly, Splenomegaly, Ascites	ORPHA:75565
Narcolepsy 1	Narcolepsy	OMIM:161400
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst	ORPHA:454840
Cowden Syndrome 6	Hydrocele testis, Ovarian cyst, Varicocele, Goiter	OMIM:615109
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Hepatosplenomegaly, L...	OMIM:260920
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis	ORPHA:280365
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Cirrhosis...	OMIM:608594
Sting-Associated Vasculopathy, Infantile-Onset	Raynaud phenomenon, Failure to thrive, Tachypnea, Telangiectasia	OMIM:615934
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stage 5 chronic ki...	OMIM:249100
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Cirrhosis, Hepatic steatosis	ORPHA:79086
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Labial hypertrophy, Poly...	OMIM:269700
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Tachypnea, Abnormality of the hypothalamus-pituitary axis, Apnea	ORPHA:2318
Lambert-Eaton Myasthenic Syndrome	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction	ORPHA:43393
Cowden Syndrome 5	Hydrocele testis, Ovarian cyst, Goiter	OMIM:615108
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Polycystic ovaries	ORPHA:2176
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Short stature, Apnea, Rhizomelic leg shortening, Tachypnea, Rhizomelic arm shortening, Abnormal o...	ORPHA:397715
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Male ...	OMIM:219800
Holocarboxylase Synthetase Deficiency	Irritability, Tachypnea, Hyperventilation	OMIM:253270
Leprosy	Abnormality of the seventh cranial nerve, Abnormality of the adrenal glands, Epistaxis, Abnormal ...	ORPHA:548
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Short Syndrome	Ovarian cyst	OMIM:269880
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Narcolepsy, Optic atrophy, Depression	ORPHA:314404
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Familial Acute Necrotizing Encephalopathy	Abnormal thalamus morphology	ORPHA:88619
Familial Mediterranean Fever	Acute hepatic failure, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephroc...	ORPHA:342
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a...	ORPHA:99889
Joubert Syndrome	Aganglionic megacolon, Apnea, Episodic tachypnea, Abnormality of the hypothalamus-pituitary axis,...	ORPHA:475
Genetic Transient Congenital Hypothyroidism	Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr...	ORPHA:226316
Congenital Disorder Of Deglycosylation 2	Partial agenesis of the corpus callosum, Hypothalamic hamartoma	OMIM:619775
Fibrous Dysplasia Of Bone	Antalgic gait, Precocious puberty in females, Testicular neoplasm, Elevated circulating growth ho...	ORPHA:249
Joubert Syndrome 1	Central apnea, Optic disc pallor, Hyperactivity, Episodic tachypnea, Aggressive behavior, Optic d...	OMIM:213300
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Optic atrophy	OMIM:616881
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis	OMIM:615947
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis	OMIM:238600
Ovarian Dysgenesis 3	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:614324
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Pyruvate Carboxylase Deficiency	Failure to thrive, Anorexia, Tachypnea, Growth delay, Abnormal temper tantrums, Compulsive behavi...	ORPHA:3008
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Nodular goiter, Premature thelarche, Polycystic ovaries	ORPHA:371428
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Polycystic ovaries, Hepatic steatosis	OMIM:151660
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal thalamus morphology	ORPHA:404440
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Acromelic Frontonasal Dysostosis	Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Rajab Interstitial Lung Disease With Brain Calcifications 1	Short stature, Small for gestational age, Portal hypertension, Tachypnea, Respiratory insufficien...	OMIM:613658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia	OMIM:253800
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
3P25.3 Microdeletion Syndrome	Abnormal thalamus morphology	ORPHA:435638
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Tachypnea, Pulmonary arterial hypertension	OMIM:613834
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia	OMIM:617864
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Crackles, Tachypnea, ST segment depression, Hypotension, Hypocapnia, Abnor...	ORPHA:466650
Atelis Syndrome 2	Vitreous hemorrhage, Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia	OMIM:620185
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Tachypnea, Respiratory insufficiency, Irritability, Respiratory failure, Failure to thrive	OMIM:618278
Joubert Syndrome 2	Central apnea, Episodic tachypnea, Optic disc coloboma, Failure to thrive, Neonatal breathing dys...	OMIM:608091
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy	OMIM:617301
Blau Syndrome	Clear cell renal cell carcinoma, Abnormal retinal vascular morphology, Splenomegaly, Retrobulbar ...	ORPHA:90340
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Depression, Neopl...	ORPHA:77293
Arima Syndrome	Dyspnea, Tachypnea, Optic atrophy, Growth delay, Hypertension, Polydipsia	OMIM:243910
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Digeorge Syndrome	Parathyroid agenesis, Thrombocytopenia, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, O...	OMIM:188400
Orofaciodigital Syndrome Type 6	Short stature, Apnea, Episodic tachypnea, Growth delay, Failure to thrive	ORPHA:2754
Biotinidase Deficiency	Optic atrophy, Tachypnea, Apnea	OMIM:253260
Hypothyroidism Due To Tsh Receptor Mutations	Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr...	ORPHA:90673
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy	OMIM:617281
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of the diencephalon	ORPHA:2720
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Optic atrophy, Dystonia	ORPHA:521426
Viss Syndrome	Hypereosinophilia, Right ventricular hypertrophy	OMIM:619472
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Progeria-Short Stature-Pigmented Nevi Syndrome	Abnormal thalamus morphology	ORPHA:2959
Orofaciodigital Syndrome I	Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Hepatic cysts	OMIM:311200
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes...	OMIM:619522
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Double Outlet Left Ventricle	Failure to thrive, Tachypnea, Systolic heart murmur, Abnormal right ventricular function	ORPHA:3427
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Optic nerve hypoplasia	OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Optic atrophy	OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Uterine prolapse, Exaggerated startle response, Precocious puberty, Cryptorchi...	ORPHA:438213
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Tachypnea, Abnormal heart valve physiology, Hypoplasia of the ...	ORPHA:3384
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor...	OMIM:300166
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A...	ORPHA:649
Microphthalmia, Syndromic 3	Agenesis of corpus callosum, Anterior pituitary hypoplasia, Hypothalamic hamartoma	OMIM:206900
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol...	ORPHA:572333
Japanese Encephalitis	Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology	ORPHA:79139
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Tachypnea	OMIM:615751
Orofaciodigital Syndrome Vi	Agenesis of corpus callosum, Hypothalamic hamartoma	OMIM:277170
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Turner Syndrome Due To Structural X Chromosome Anomalies	Increased circulating gonadotropin level, Biliary cirrhosis, Depression, Cholestatic liver diseas...	ORPHA:99413
Mosaic Monosomy X	Increased circulating gonadotropin level, Biliary cirrhosis, Depression, Cholestatic liver diseas...	ORPHA:99228
Monosomy X	Increased circulating gonadotropin level, Biliary cirrhosis, Depression, Cholestatic liver diseas...	ORPHA:99226
Turner Syndrome	Increased circulating gonadotropin level, Biliary cirrhosis, Depression, Cholestatic liver diseas...	ORPHA:881
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir...	ORPHA:637
Pallister-Hall Syndrome	Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma	OMIM:146510
Goodpasture Syndrome	Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Exertional dysp...	OMIM:233450
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Tachypnea, Hypertension, Mitral regurgitation, Dysphagia, Hypertrophic...	OMIM:220111
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Tachypnea	ORPHA:415
Joubert Syndrome 5	Central apnea, Episodic tachypnea, Neonatal breathing dysregulation, Aggressive behavior	OMIM:610188
Hypothyroidism, Congenital, Nongoitrous, 2	Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr...	OMIM:218700
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353277
Williams Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Cardiomegaly, Precocious puberty, Cry...	ORPHA:904
Orofaciodigital Syndrome Type 2	Tachypnea, Short stature, Apnea	ORPHA:2751
Dermatomyositis	Abnormal eosinophil morphology	ORPHA:221
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio...	OMIM:157170
Neuroocular Syndrome	Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Pallister-Hall Syndrome	Adrenocorticotropic hormone deficiency, Gonadotropin deficiency, Pituitary hypothyroidism, Abnorm...	ORPHA:672
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367

Histopathology

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

There is no histopathology data for Tph2

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tph2.

No publications found that use IMPC mice or data for Tph2.

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MGI Allele	Allele Type	Produced
Tph2^{tm40059(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Tph2^em1(IMPC)Mbp	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tph2 MGI:2651811

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E18.5

Histopathology

Human diseases caused by Tph2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data