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Gene: Plppr5 MGI:1923019

Gene Summary

Name:

phospholipid phosphatase related 5

Synonyms:

Lppr5, 4833424O15Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal skin morphology	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lymph node morphology	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
cystolithiasis	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased kidney weight	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	2.87×10^-06
abnormal eye morphology	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small testis	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged lymph nodes	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal bone structure	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating chloride level	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	1.90×10^-05
enlarged thymus	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased neutrophil cell number	Plppr5^em1(IMPC)H	HOM	Early adult	5.72×10^-05
anophthalmia	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal urinary bladder morphology	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal testis morphology	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged heart	Plppr5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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Human diseases caused by Plppr5 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 Plppr5 (0 diseases)
Human diseases predicted to be associated with Plppr5 (639 diseases)

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

The table below shows human diseases predicted to be associated to Plppr5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Aggressive behavior, Seizure, Bruxism	ORPHA:356996
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Bicornuate uter...	OMIM:615524
Hepatic Venoocclusive Disease With Immunodeficiency	Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ...	ORPHA:3077
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia	OMIM:620270
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Meckel Syndrome, Type 8	Anophthalmia, Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthal...	OMIM:613885
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Seizure, Gait disturbance, Obesity	ORPHA:436141
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid...	ORPHA:2470
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, B...	OMIM:601186
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse...	ORPHA:208441
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Emotional lability, Obesity	OMIM:309585
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Ataxia, Inability to walk, Obesity, Seizure, Dystonia, Generaliz...	OMIM:616756
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Trisomy 13	Anophthalmia, Ventricular septal defect, Cryptorchidism, Abnormality of the ureter, Aplasia/Hypop...	ORPHA:3378
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Intellectual Developmental Disorder, Autosomal Recessive 46	Ataxia, Aggressive behavior, Large for gestational age, Self-injurious behavior, Seizure, Agitation	OMIM:616116
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi...	OMIM:615382
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre...	OMIM:235200
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Renal cortical adenoma, Pa...	ORPHA:97290
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Intellectual Developmental Disorder, X-Linked 108	Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder	OMIM:301024
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Cryptorchidism, Microp...	ORPHA:77298
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Trisomy 1Q	Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Anophthalmia, Cryptorchid...	ORPHA:261344
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp...	ORPHA:85445
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Stage 5 ...	OMIM:602088
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Seizure, Inappropriate la...	ORPHA:411515
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Lymphadenopathy, Microphthalmia, Anemia	ORPHA:858
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Kerion Celsi	Lymphadenopathy	ORPHA:499
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Progressive neurologic deterioration, Tremor, Increased body weight, Seizure, Agitation, Lethargy	ORPHA:276608
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia...	OMIM:610125
Adiposis Dolorosa	Obesity, Depression	OMIM:103200
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo...	ORPHA:319487
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Resting tremor, Dystonia, Ataxia, Tremor, Obesity, Choreoathetosis, Seizure, Bradyk...	OMIM:300055
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
H Syndrome	Histiocytosis, Diabetes mellitus, Hypertriglyceridemia, Abnormality of the kidney, Microcytic ane...	ORPHA:168569
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated l...	OMIM:269920
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic ...	ORPHA:464329
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease...	ORPHA:730
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Generalized non-motor (absence) seizure, Obesity, Seizure, Abnormal repetitive manner...	OMIM:613886
Mehmo Syndrome	Small for gestational age, Aggressive behavior, Inability to walk, Obesity, Gait ataxia, Seizure,...	OMIM:300148
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Impulsivity, Increased body weight, Hand tremor, Seizure, Gait disturbance, Attention deficit hyp...	ORPHA:589905
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Overweight, Seizure, Difficulty walking, Dystonia, Abnormal repetitive mannerisms	ORPHA:280763
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe...	OMIM:618280
11P15.4 Microduplication Syndrome	Seizure, Obesity, Aggressive behavior	ORPHA:300305
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Polyuria, Hy...	OMIM:601678
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo...	ORPHA:100083
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Overweight, Tremor, Depression, Seizure, Gait disturbance, Abnorm...	ORPHA:457240
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Seizure, Obesity, Depression	ORPHA:276630
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferriti...	OMIM:603552
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Septate vagina, Dextrocardia,...	OMIM:608978
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Asplenia, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosi...	OMIM:615415
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
X-Linked Intellectual Disability, Hedera Type	Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait distur...	ORPHA:93952
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, A...	ORPHA:54251
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology, Hyperuricemia, Decreased proportion of...	ORPHA:543
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pituitary null cell a...	ORPHA:97289
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
Spastic Paraplegia 47, Autosomal Recessive	Waddling gait, Overweight, Inability to walk, Seizure, Dystonia	OMIM:614066
Renal-Hepatic-Pancreatic Dysplasia 1	Atrial septal defect, Renal insufficiency, Hepatomegaly, Pancreatic fibrosis, Asplenia, Splenomeg...	OMIM:208540
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia	ORPHA:100025
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hyperlipidemia, Osteoporosis, Nephr...	OMIM:232220
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Anemia, Nephrotic syndrome, Focal segm...	OMIM:617303
Ataxia-Oculomotor Apraxia Type 4	Short attention span, Ataxia, Obesity, Cognitive impairment, Dystonia	ORPHA:459033
Idiopathic Intracranial Hypertension	Obesity, Depression, Focal sensory seizure with olfactory features, Abnormal emotion, Lethargy	ORPHA:238624
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Micropht...	OMIM:618652
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr...	ORPHA:564
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age	OMIM:256450
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Cockayne Syndrome Type 2	Hepatomegaly, Male hypogonadism, Anophthalmia, Cryptorchidism	ORPHA:90322
Hydrolethalus	Microphthalmia, Cryptorchidism, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:2189
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ...	OMIM:263200
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Truncus arteriosus, Renal agenesis, Ren...	ORPHA:2538
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue...	OMIM:194080
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia, Craniosynostosis, Congenital hypothyroidism	ORPHA:88643
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Foca...	ORPHA:163681
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Autism, Susceptibility To, X-Linked 6	Seizure, Obesity	OMIM:300872
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Microphthalmia	ORPHA:139471
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Obesity, Seizure, Difficult...	ORPHA:464282
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Cryptorchidism, Abnormal circulating creatine kinase concentra...	ORPHA:899
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:613101
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Baralle-Macken Syndrome	Inability to walk, Focal-onset seizure, Obesity, Dystonia	OMIM:619255
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age	OMIM:240900
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Seizure, Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre...	ORPHA:465508
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Inc...	OMIM:241200
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Generalized non-motor (absence) seizure, Obesity, Focal impaired awareness s...	OMIM:616521
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia	ORPHA:66625
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Intellectual Developmental Disorder With Autism And Macrocephaly	Overweight, Pica, Seizure, Recurrent hand flapping, Tall stature	OMIM:615032
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Elevated circulating cr...	OMIM:608836
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentrat...	OMIM:618886
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, ...	OMIM:206900
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentratio...	OMIM:614034
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology	ORPHA:85447
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomegaly, Cryptorc...	OMIM:130650
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Cryptorchidism, Increased blood ure...	ORPHA:90321
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ...	OMIM:619854
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Rosaï-Dorfman Disease	Osteolysis, Anemia, Lymphadenopathy	ORPHA:158014
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Craniosynostosis, Increased...	ORPHA:251004
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ...	ORPHA:481
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ...	ORPHA:98794
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Diabetes insipidus, Ventricula...	ORPHA:2162
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Subperiosteal bone form...	OMIM:618188
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Seizure, Inappropr...	ORPHA:411511
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Spastic Paraplegia 11, Autosomal Recessive	Ataxia, Obesity, Tip-toe gait, Dysphagia, Mental deterioration, Spastic gait	OMIM:604360
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Meg...	OMIM:222300
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma...	ORPHA:276280
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
6Q16 Microdeletion Syndrome	Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic...	ORPHA:2250
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Small scrotum, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplas...	ORPHA:264200
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian...	ORPHA:83469
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Leptin Receptor Deficiency	Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Polyphagia	OMIM:614963
Castleman Disease	Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive ...	ORPHA:160
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Broad-based gait, Increased body weight	OMIM:614450
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevat...	OMIM:619644
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Obesity, Tall stature	OMIM:618406
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic...	OMIM:609981
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
14Q11.2 Microduplication Syndrome	Aggressive behavior, Obesity, Seizure, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:261229
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Polysplenia, Cystic renal dysplasia, Enlarge...	OMIM:200995
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Roifman Syndrome	Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Delayed proximal femor...	ORPHA:353298
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Lymphadenopathy, Hematuria, Anemia, Thrombocytopenia	ORPHA:69077
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,...	OMIM:214800
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Co...	ORPHA:309246
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Morgagni-Stewart-Morel Syndrome	Obesity, Depression, Seizure, Cognitive impairment, Memory impairment, Action tremor	ORPHA:77296
Obesity Due To Prohormone Convertase I Deficiency	Polyphagia, Obesity, Hypoglycemic seizures, Failure to thrive, Childhood-onset truncal obesity	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Polyphagia, Obesity, Hypoglycemic seizures, Failure to thrive, Childhood-onset truncal obesity	ORPHA:71526
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Hypoglycemic seizures, Agitation, Status epilepticus, Lethargy, Polyph...	ORPHA:276556
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Obesity And Hypopigmentation	Overgrowth, Polyphagia, Obesity	OMIM:620195
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Choreoacanthocytosis	Oromandibular dystonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dyston...	ORPHA:2388
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Hypothyroidism, Tubulointerstitial fibrosis, Hepatomegaly, Osteopor...	ORPHA:79259
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Abnormal h...	ORPHA:505248
Anencephaly 2	Anophthalmia	OMIM:619452
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis...	OMIM:214700
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Abnormality ...	ORPHA:2035
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Focal segmental glomeru...	OMIM:232200
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Obesity, Seizure, Attention deficit hyperactivity disorder	OMIM:301013
Obesity Due To Melanocortin 4 Receptor Deficiency	Polyphagia, Obesity, Childhood-onset truncal obesity	ORPHA:71529
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal fallopian tube m...	ORPHA:3412
Fibular Hemimelia	Anophthalmia, Craniosynostosis, Abnormal heart morphology, Abnormal bone ossification, Renal dysp...	ORPHA:93323
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphadenopathy, A...	ORPHA:99812
Microduplication Xp11.22P11.23 Syndrome	Seizure, Obesity	ORPHA:217377
Charge Syndrome	Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Tetralogy of Fallot, ...	ORPHA:138
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration	OMIM:313200
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Fraser Syndrome 1	Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Bilateral microphthalmos, Re...	OMIM:219000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hypoglycemic seizures, Agitation, Status epilepticus, Lethargy, Polyph...	ORPHA:276575
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Obesity Due To Sim1 Deficiency	Obesity, Cognitive impairment, Attention deficit hyperactivity disorder, Memory impairment, Polyp...	ORPHA:369873
Angelman Syndrome	Hyperactivity, Broad-based gait, Generalized myoclonic seizure, Ataxia, Atonic seizure, Aggressiv...	ORPHA:72
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Obesity, Aggressive behavior	ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Hypoglycemic seizures, Agitation, Status epilepticus, Lethargy, Polyph...	ORPHA:276580
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ...	OMIM:602782
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Dil...	ORPHA:2556
Wilson Disease	Aggressive behavior, Hypersexuality, Increased body weight, Depression, Weight loss, Difficulty w...	ORPHA:905
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Polycythemia, Hypothyroid...	ORPHA:116
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Obesity, Seizure, Compulsive behaviors, Abnormal repe...	OMIM:618430
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard...	ORPHA:79328
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Increased circulat...	OMIM:613179
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Cryptorchidism, Anophthalmia, Tricuspid valve prolapse	ORPHA:1101
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Insulinoma	Tremor, Increased body weight, Seizure, Transient global amnesia, Lethargy, Polyphagia	ORPHA:97279
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig...	OMIM:612651
Cold Agglutinin Disease	Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Large for gestational age, Hypoglycemic seizures, Agitation, Lethargy,...	ORPHA:324575
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Lymphadenopathy, Hemophagocytosis, Neut...	ORPHA:79477
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Memory impairment, Seizure,...	ORPHA:2822
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:212140
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Progressive neurologic deterioration, Large for gestational age, Tremor, Increased body weight, S...	ORPHA:263455
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma, Thicke...	OMIM:253250
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Holoprosencephaly 9	Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:610829
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat...	OMIM:300280
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper...	ORPHA:2969
Nephroblastoma	Hematuria, Nephroblastoma, Aniridia, Lymphadenopathy	ORPHA:654
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Smith-Magenis Syndrome	Hyperactivity, Self hugging, Increased body weight, Head-banging, Seizure, Onychotillomania, Abno...	OMIM:182290
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab...	OMIM:616393
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Lymphoid Interstitial Pneumonia	Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly	ORPHA:79128
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Hypospadias, Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy, Mi...	OMIM:616897
Ataxia-Oculomotor Apraxia 4	Ataxia, Obesity, Cognitive impairment, Dystonia	OMIM:616267
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Ataxia, Aggressive behavior, Pica, Obesity, Seizure, Status epilepticus	OMIM:620191
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:607115
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Lymphadeno...	ORPHA:98850
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Nephrotic s...	ORPHA:39041
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Felty Syndrome	Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Splenomegaly, Thrombocytopenia, O...	ORPHA:47612
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Ataxia, Generalized clonic seizure, Overweight, Focal-onset seizure, Focal ...	OMIM:619229
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato...	OMIM:619750
Joubert Syndrome 32	Ataxia, Tall stature, Large for gestational age	OMIM:617757
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Myocarditis, Endocard...	ORPHA:549
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Polycythemia, Abnormality of t...	ORPHA:2905
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly	OMIM:619064
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Anophthalmia, Renal cyst	OMIM:615636
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Lymphadenopa...	OMIM:257200
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell...	ORPHA:276
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegal...	ORPHA:731
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Laurence-Moon Syndrome	Ataxia, Obesity	OMIM:245800
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Obesity, Limb tremor, Seizure, Progressive gait ataxia, ...	OMIM:105830
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Abnormal heart valve morphology, ...	ORPHA:36412
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Tularemia	Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l...	ORPHA:3392
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Mucolipidosis Ii Alpha/Beta	Osteopenia, Hepatomegaly, Increased serum beta-hexosaminidase, Craniosynostosis, Cardiomegaly, Sp...	OMIM:252500
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:614702
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Obesity	OMIM:614651
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Decreased skull ossification, Testicular atrophy	OMIM:601163
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow ...	ORPHA:381
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea...	ORPHA:829
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:255120
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Anophthalmia, Cryp...	ORPHA:2052
Microphthalmia, Syndromic 2	Anophthalmia, Hypospadias, Ventricular septal defect, Septate vagina, Dextrocardia, Cryptorchidis...	OMIM:300166
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating...	ORPHA:42
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,...	ORPHA:508
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosple...	OMIM:618935
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto...	ORPHA:824
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Congenital Myopathy 9A	Obesity, Akinesia	OMIM:618822
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Thyroid Lymphoma	Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Ogden Syndrome	Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes, Car...	OMIM:300855
Mixed Connective Tissue Disease	Hepatomegaly, Pericarditis, Hemolytic anemia, Splenomegaly, Mediastinal lymphadenopathy, Myocardi...	ORPHA:809
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight, Depression	OMIM:615954
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Seizure, Attention deficit hyper...	OMIM:619680
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Di...	OMIM:615895
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,...	OMIM:618838
Scrub Typhus	Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Mogs-Cdg	Atrial septal defect, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly...	ORPHA:79330
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, I...	OMIM:603553
Boutonneuse Fever	Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:83313
Immunodeficiency 10	Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Seizure, Increased body weight, Aggressive behavior	OMIM:300860
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphaden...	ORPHA:29073
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferriti...	ORPHA:540
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy, Hematuria, N...	ORPHA:93552
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypothyroidism, Hypocalcemia, Tetralogy of Fallot, Paten...	OMIM:601005
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Incre...	ORPHA:98813
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicul...	OMIM:300322
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o...	OMIM:239850
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card...	OMIM:266500
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Epididymitis, Cor pulmonale, Lymph node hypoplasia, T lymphoc...	OMIM:300755
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, External genital hypoplasia, Unilateral renal agenesis, ...	ORPHA:141099
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c...	ORPHA:1332
Pigmented Nodular Adrenocortical Disease, Primary, 4	Emotional lability, Increased body weight, Depression	OMIM:615830
Papa Syndrome	Type I diabetes mellitus, Proteinuria, Lymphadenopathy	ORPHA:69126
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:201475
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Lymphadenopathy,...	OMIM:304790
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Seizure, Gait disturbance, Atten...	ORPHA:500055
Hsd10 Disease, Infantile Type	Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitin...	ORPHA:391428
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy	ORPHA:142
Adiposis Dolorosa	Memory impairment, Seizure, Obesity, Depression	ORPHA:36397
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Nephrotic syndrom...	OMIM:617713
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia, Craniosynostosis, Hypoplastic male external genitalia	OMIM:605627
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Impotence	OMIM:268800
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder	OMIM:274300
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Myocarditis, Thyroiditis, Lymphadenopathy, Tubulointerstitial ...	ORPHA:139402
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt...	ORPHA:169090
Microphthalmia, Syndromic 6	Small scrotum, Female hypogonadism, Anophthalmia, Adrenal hypoplasia, Cryptorchidism, Renal hypop...	OMIM:607932
Proximal 16P11.2 Microdeletion Syndrome	Obesity, Choreoathetosis, Seizure, Attention deficit hyperactivity disorder, Dystonia, Failure to...	ORPHA:261197
Combined Oxidative Phosphorylation Deficiency 15	Ataxia, Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Tr...	OMIM:614947
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia	OMIM:618165
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Supernumerary nipple, Cryptorchidism, Horseshoe kidney, Clito...	OMIM:305600
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Central hypothyroidis...	ORPHA:514
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopeni...	ORPHA:520
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia, Hypoalbum...	ORPHA:37042
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Simpson-Golabi-Behmel Syndrome, Type 1	Atrial septal defect, Hepatomegaly, Hypospadias, Ventricular septal defect, Supernumerary nipple,...	OMIM:312870
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Emotion...	OMIM:612469
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Perrault Syndrome 4	Disproportionate tall stature, Obesity, Cognitive impairment, Gait ataxia	OMIM:615300
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis	ORPHA:79456
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Abnormality...	ORPHA:556
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Irritability, Myoc...	ORPHA:447997
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu...	OMIM:232300
Middle Ear Neuroendocrine Tumor	Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor	ORPHA:100084
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Glandular hypospadias, Abnormal circulating ceruloplas...	OMIM:620306
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	ORPHA:50918
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thr...	ORPHA:79124
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Familial Mediterranean Fever	Pericarditis, Proteinuria, Orchitis, Splenomegaly, Lymphadenopathy, Nephrocalcinosis, Nephrotic s...	ORPHA:342
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c...	ORPHA:57777
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Trichotillomania	Hair-pulling, Compulsive behaviors	OMIM:613229
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, True anophthalmia, Horseshoe kidney	ORPHA:1106
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Chylopericardium, Ly...	ORPHA:538
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Cyclic Neutropenia	Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy, Decreased e...	ORPHA:2686
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:363705
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Abno...	ORPHA:100093
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Renal agenesis, Supernumerary nipple, Cryptorchidism, Renal cyst, Micr...	OMIM:113620
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk...	ORPHA:32960
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ...	ORPHA:781
Brucellosis	Hepatomegaly, Pericarditis, Glomerulonephritis, Elevated circulating C-reactive protein concentra...	ORPHA:1304
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Cardiomegaly	OMIM:613320
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling,...	OMIM:620330
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevat...	OMIM:619991
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Increased body weight, Seizure, Abdominal obesity, Abnormal temper tantrums, Compuls...	ORPHA:398069
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Emotional lability, Depression, Abdominal obesity, Cognitive impairment, M...	ORPHA:189427
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Abnormality of the kidney, Abnormality of the thyroid gland, P...	ORPHA:449432
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Abnormal thymus morphology, Cardiomegaly, Abnormal bone ossification	ORPHA:2463
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia,...	OMIM:617591
Resistance To Thyrotropin-Releasing Hormone Syndrome	Overweight, Lethargy, Depression	ORPHA:99832
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100080
Autoimmune Lymphoproliferative Syndrome	Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD...	ORPHA:3261
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Craniosynostosis, Cardiomegaly, Abnormally large globe, Osteop...	OMIM:245600
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated c...	OMIM:614921
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg...	OMIM:618278
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Hennekam Syndrome	Craniosynostosis, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia,...	ORPHA:2136
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Renal artery aneurysm, Elevated circulating C-reactive protein concen...	OMIM:615688
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly	OMIM:105210
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypothyroidis...	ORPHA:797
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Coccidioidomycosis	Abnormal sperm morphology, Renal insufficiency, Pericarditis, Eosinophilia, Abnormality of the ki...	ORPHA:228123
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Anemia	OMIM:608013
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Microphtha...	ORPHA:137675
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Reduced bone m...	ORPHA:667
Pancreatoblastoma	Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology	ORPHA:677
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Pericardial effu...	ORPHA:167
Proteus Syndrome	Thymus hyperplasia, Macroorchidism, Craniosynostosis, Testicular neoplasm, Neoplasm of the thymus...	ORPHA:744
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Hepatomegaly, Adenoiditis, Heparan sulfate excretion in urine, Splenom...	ORPHA:581
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Cervical neoplasm, Elevated urinary catecholamine level, Hypercal...	ORPHA:653
Immunodeficiency 31C	Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Diabetes me...	OMIM:614162
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L...	ORPHA:33226
Abetalipoproteinemia	Osteopenia, Hepatomegaly, Reticulocytosis, Decreased HDL cholesterol concentration, Cardiomegaly,...	ORPHA:14
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cryptorchidism, Cardiomegaly	OMIM:618143
Sotos Syndrome	Aggressive behavior, Increased body weight, Seizure, Overgrowth, Attention deficit hyperactivity ...	OMIM:117550
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc...	ORPHA:904
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Polyphagia, Obesity, Hypoglycemic seizures	OMIM:609734
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy	ORPHA:343
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100082
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Splenomegaly, Pr...	OMIM:619418
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Hypothyroidism, Cardiomegaly	ORPHA:349
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Sclerosis of skull base, Neutrop...	OMIM:607944
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab...	ORPHA:3384
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia	ORPHA:293173
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph...	OMIM:615934
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Yunis-Varon Syndrome	Absent sternal ossification, Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism...	ORPHA:3472
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Bicuspid aortic valve, Anophthalmia, Renal hypoplasia/aplasia, Cryptorc...	OMIM:309800
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Diabetes mellitus, Lymphadenopathy, Hepatosplenomegaly, Ovarian carcinoma	ORPHA:1333
Cantú Syndrome	Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly	ORPHA:1517
Adrenocortical Carcinoma	Irritability, Increased body weight, Weight loss	ORPHA:1501
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri...	ORPHA:308552
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Pulmonic ...	ORPHA:100078
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Ectopic kidney, Cryptorchidism, Osteoporosis, Abnormality of the Leydig cells, Testi...	ORPHA:3063
Farber Disease	Osteoporosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:333
Marburg Hemorrhagic Fever	Reticulocytosis, Renal insufficiency, Pericarditis, Lymphopenia, Elevated circulating creatine ki...	ORPHA:99826
Graft Versus Host Disease	Hemophagocytosis, Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:39812
Behçet Disease	Glomerulopathy, Renal insufficiency, Pericarditis, Orchitis, Splenomegaly, Endocarditis, Lymphade...	ORPHA:117
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis	OMIM:233710
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, ...	ORPHA:268
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating...	OMIM:256040
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Mitral valve prolapse, Hilar lymph node ...	OMIM:620233
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis	OMIM:233690
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Adrenocortical adenoma, Pheochromocytoma, P...	ORPHA:139411
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer	ORPHA:79140
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100075
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy, Reduced bone mineral density	OMIM:620232
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Proteinuria, Elevated circulating creatine kinase conce...	ORPHA:99827
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein conce...	ORPHA:100085
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Igg4-Related Ophthalmic Disease	Eosinophilia, Elevated circulating C-reactive protein concentration, Abnormality of the kidney, O...	ORPHA:449563
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc...	OMIM:619381
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Lymphopenia, Autoim...	OMIM:619573
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Autoimmune thro...	ORPHA:331235
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hemolytic anemia, Generalized lymphadenopathy, Pancytopenia, Pericardial effusion, ...	OMIM:615846
Aicardi-Goutières Syndrome	Diabetes mellitus, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chroni...	ORPHA:51
Bohring-Opitz Syndrome	Nephroblastoma, Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Cholelithias...	ORPHA:97297
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Ovarian neoplasm, Adreno...	ORPHA:100079
Monosomy 22Q13.3	Hyperactivity, Hair-pulling, Obesity, Seizure, Bruxism	ORPHA:48652
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia	ORPHA:1572
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Renal agenesis, Ectopic ki...	OMIM:164210
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Neutrophilia, Eosinophilia, Splenomegaly, Cervical ly...	ORPHA:3260
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis	OMIM:306400
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Osteoporosis, Oli...	ORPHA:365
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Renal insufficiency, Glomerulonephritis, Abnormality of the kidne...	ORPHA:289390
Malt Lymphoma	Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Tubulointer...	ORPHA:79078
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation	ORPHA:293948
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Lymp...	ORPHA:90340
Kawasaki Disease	Pericarditis, Proteinuria, Abnormal heart valve morphology, Myocarditis, Cervical lymphadenopathy...	ORPHA:2331
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T...	ORPHA:536
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Osteomalacia, Adrenal calcification, Cardiomegaly, Pe...	ORPHA:51608
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega...	ORPHA:75565
Cushing Disease	Increased body weight, Emotional lability, Depression, Truncal obesity, Abdominal obesity, Dement...	ORPHA:96253
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Pericarditis, Urinary incontinence, Abnormality of the menstru...	ORPHA:3385
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Leptospirosis	Hepatomegaly, Pericarditis, Cellular urinary casts, Lymphadenopathy, Hyperproteinemia, Acute kidn...	ORPHA:509
Chikungunya	Periostitis, Cervical lymphadenopathy, Osteolysis, Lymphadenopathy	ORPHA:324625
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Increased body weight	ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Increased body weight	ORPHA:79240
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Hellp Syndrome	Increased body weight	ORPHA:244242
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Singleton-Merten Syndrome 1	Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O...	OMIM:182250
Carney Complex	Abdominal obesity, Increased body weight, Tall stature	ORPHA:1359

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 Plppr5

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 Plppr5.

No publications found that use IMPC mice or data for Plppr5.

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MGI Allele	Allele Type	Produced
Plppr5^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Plppr5^em3(IMPC)H	Exon Deletion	Mice
Plppr5^em2(IMPC)H	Exon Deletion	Mice
Plppr5^{tm48116(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Plppr5^em1(IMPC)H	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: Plppr5 MGI:1923019

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Plppr5 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data