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Gene: Zfp503 MGI:1353644

Gene Summary

Name:

zinc finger protein 503

Synonyms:

Nolz1, Zpo2, B830002A16Rik, Nolz-1, ZNF503

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
decreased grip strength	Zfp503^em1(IMPC)Mbp	HET	Early adult	9.40×10^-05
edema	Zfp503^em1(IMPC)Mbp	HOM	E15.5	0.00
decreased circulating creatinine level	Zfp503^em1(IMPC)Mbp	HET	Early adult	1.73×10^-05
preweaning lethality, complete penetrance	Zfp503^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating glucose level	Zfp503^em1(IMPC)Mbp	HET	Early adult	4.08×10^-06
enlarged kidney	Zfp503^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged lymph nodes	Zfp503^em1(IMPC)Mbp	HET	Early adult	0.00
anophthalmia	Zfp503^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal embryo size	Zfp503^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Zfp503^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal male genitalia morphology	Zfp503^em1(IMPC)Mbp	HET	Early adult	3.04×10^-07
edema	Zfp503^em1(IMPC)Mbp	HET	E15.5	0.00
increased exploration in new environment	Zfp503^em1(IMPC)Mbp	HET	Early adult	1.08×10^-05
microcephaly	Zfp503^em1(IMPC)Mbp	HOM	E15.5	0.00
increased basophil cell number	Zfp503^em1(IMPC)Mbp	HET	Early adult	2.02×10^-05
abnormal kidney morphology	Zfp503^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal lymph node morphology	Zfp503^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal optic disk morphology	Zfp503^em1(IMPC)Mbp	HET	Early adult	4.81×10^-13

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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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Gross Morphology Embryo E14.5-E15.5

Images

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Zfp503 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 Zfp503 (0 diseases)
Human diseases predicted to be associated with Zfp503 (594 diseases)

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

The table below shows human diseases predicted to be associated to Zfp503 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lipedema	Edema	OMIM:614103
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619363
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Kaposi Sarcoma, Susceptibility To	Edema	OMIM:148000
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Angioedema, Hereditary, 5	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619361
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Cerebrooculofacioskeletal Syndrome 3	Edema, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus callosum, Intraute...	OMIM:616570
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Optic atrophy, Depression, Type...	OMIM:614296
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Optic Atrophy--Spastic Paraplegia Syndrome	Abnormal oral glucose tolerance, Optic atrophy	OMIM:311100
Ribose 5-Phosphate Isomerase Deficiency	Increased level of ribose in urine, Increased level of ribitol in urine, Increased level of xylit...	OMIM:608611
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Edema, Familial Idiopathic, Prepubertal	Edema	OMIM:129840
Ceroid Lipofuscinosis, Neuronal, 9	Psychomotor deterioration, Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy	OMIM:609055
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation, Cerebral cortical atrophy, Microcephaly	ORPHA:291
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Pericardial effusion, Microph...	OMIM:613885
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Oculocerebrocutaneous Syndrome	Anophthalmia, Orbital encephalocele, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis ...	OMIM:164180
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Macular Dystrophy, Dominant Cystoid	Cystoid macular edema, Edema	OMIM:153880
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Wolfram-Like Syndrome	Peripheral axonal neuropathy, Diabetes mellitus, Abnormality of the upper urinary tract, Optic at...	ORPHA:411590
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Confusion, Hematuria, Microangiopathic hemolyt...	ORPHA:54057
Lymphatic Malformation 3	Lymphedema	OMIM:613480
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Insulin resistance, Polycystic ...	ORPHA:90301
White Sponge Nevus 2	Edema	OMIM:615785
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Hypoglycemia, Decreased glomerular filtration rate, Splenomegaly, Hype...	OMIM:232220
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c...	ORPHA:275555
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating cr...	OMIM:617872
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Optic atrophy, Leukopenia, Chorioretin...	OMIM:617303
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer...	ORPHA:329918
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T...	OMIM:603552
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Ceroid Lipofuscinosis, Neuronal, 11	Mental deterioration, Optic atrophy, Retinal dystrophy	OMIM:614706
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Prog...	ORPHA:251004
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated ...	OMIM:608836
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru...	OMIM:232200
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Hydrolethalus	Anophthalmia, Absent septum pellucidum, Polyhydramnios, Anencephaly, Microphthalmia, Agenesis of ...	ORPHA:2189
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum	ORPHA:411986
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
H Syndrome	Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Microcytic anemia, Lymphadeno...	ORPHA:168569
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Abnorm...	OMIM:598500
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea...	ORPHA:54251
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Lymphatic Malformation 9	Predominantly lower limb lymphedema	OMIM:619319
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology, Hyperuricemia, Decreased proportion of...	ORPHA:543
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Irritability, Hypernatriuria, Hyposthenuria, Decreased...	OMIM:300539
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet...	OMIM:276700
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Atretic vas deferens, Hypospadias, Abnormality of the kidney, El...	OMIM:137920
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:613101
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Lymphedema And Cerebral Arteriovenous Anomaly	Lymphedema	OMIM:152900
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microcephaly, Microphthalmia, Inferior cerebellar vermis hypoplasia, Agenesis of co...	ORPHA:139471
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, L...	OMIM:607115
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Short stature, Microcephaly	OMIM:147250
Ceroid Lipofuscinosis, Neuronal, 1	Psychomotor deterioration, Vacuolated lymphocytes, Optic atrophy, Depression, Macular degeneratio...	OMIM:256730
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc...	OMIM:120330
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Kimura Disease	Eosinophilia, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Trisomy 13	Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt...	ORPHA:3378
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Walker-Warburg Syndrome	Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Macrogyria, Lis...	ORPHA:899
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Mental deterioration, Optic atrophy	OMIM:610951
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Lymphadenopath...	ORPHA:858
3-Methylglutaconic Aciduria, Type Iii	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Optic atrophy, Cognitive impairment	OMIM:258501
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cognitive impairment	ORPHA:2246
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia	ORPHA:664
Ceroid Lipofuscinosis, Neuronal, 3	Psychomotor deterioration, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Dementia,...	OMIM:204200
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination, Elevated circulating creatinine concentration, Abnormal renal corticome...	OMIM:616733
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Kaposiform Lymphangiomatosis	Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosplenomegaly, Abnormal...	ORPHA:464329
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia	ORPHA:100025
Senior-Loken Syndrome 1	Renal insufficiency, Retinal dystrophy, Polyuria, Thickening of the tubular basement membrane, Im...	OMIM:266900
Trisomy 1Q	Anophthalmia, Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Cerebellar hypoplas...	ORPHA:261344
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612926
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentratio...	OMIM:614034
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612924
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Dementia, Optic atrophy	OMIM:182830
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hypoglycemia, Hyperlipidemi...	ORPHA:79259
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
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Lymphadenopathy, Anemia, Irritability, Hematuria, Thrombocytopenia	ORPHA:69077
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci...	ORPHA:97290
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell...	OMIM:617575
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida	ORPHA:1104
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Optic disc coloboma...	ORPHA:2260
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Neuroendocrine neoplasm, Chronic noninfectious lymphaden...	ORPHA:100083
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Osteopetrosis, Autosomal Recessive 9	Papilledema, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyper...	OMIM:620366
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia,...	ORPHA:79312
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Microphthalmia, Anophthalmia, Agenesis of corpus callosum	ORPHA:77298
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Thrombocyto...	ORPHA:505248
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:2470
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610125
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact...	OMIM:620211
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Increased circulat...	OMIM:613179
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Elevat...	OMIM:619644
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Leprechaunism	Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy...	ORPHA:508
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Confusion, Hemolytic-uremic syndrome, Schistocytosis, Elevated circ...	OMIM:274150
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Ethylmalon...	ORPHA:26792
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Cockayne Syndrome Type 2	Intrauterine growth retardation, Anophthalmia, Subcortical white matter calcifications	ORPHA:90322
Galactokinase Deficiency	Psychomotor deterioration, Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsul...	ORPHA:79237
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Aregenerative Anemia	Pancytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Reticulocytopeni...	ORPHA:101096
Glycogen Storage Disease Ixb	Splenomegaly, Hypoglycemia, Hyperuricemia, Hepatomegaly	OMIM:261750
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Normocytic anemia, Proteinuria, Progressive neurologic deterioration, A...	ORPHA:247691
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Hydrone...	OMIM:154230
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Sarcosinemia	Hypersarcosinuria, Emotional lability, Hypersarcosinemia, Optic atrophy	ORPHA:3129
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Hyperglycemia, Retinal thinning	OMIM:618970
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Tularemia	Brain abscess, Confusion, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, M...	ORPHA:3392
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Ureteral atresia, Stage 5 chronic kidn...	OMIM:208540
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O...	ORPHA:791
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Optic atrophy, Hyperammonemia, Renal tubular...	ORPHA:289916
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblast...	OMIM:249270
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration	OMIM:602271
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidi...	OMIM:130650
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Corneal Dystrophy, Fuchs Endothelial, 2	Edema	OMIM:610158
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome, Retinal arte...	OMIM:249660
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Sta...	OMIM:614376
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Irritability, Abnormal periph...	ORPHA:457205
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Lymphadenopathy, Hemophagocytosis, Neut...	ORPHA:79477
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Cinca Syndrome	Hepatomegaly, Elevated circulating C-reactive protein concentration, Abnormality of neutrophils, ...	ORPHA:1451
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Hypoglycemia, Progressive neurologic deterioration, Optic atrophy, Hyperammonemia, I...	OMIM:618253
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurologic deteriorat...	OMIM:300438
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anem...	OMIM:611490
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem...	OMIM:262190
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:6
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho...	ORPHA:319487
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Yellow Nail Syndrome	Predominantly lower limb lymphedema, Lymphedema	OMIM:153300
Cach Syndrome	Progressive neurologic deterioration, Optic atrophy, Nonketotic hyperglycinemia, Renal hypoplasia...	ORPHA:135
Early-Onset X-Linked Optic Atrophy	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Emotional lability	ORPHA:98890
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma...	ORPHA:276280
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentr...	ORPHA:116
Lymphoid Interstitial Pneumonia	Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly	ORPHA:79128
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Propionic Acidemia	Hepatomegaly, Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:35
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation	OMIM:206920
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Coach Syndrome 2	Hyperechogenic kidneys, Elevated circulating creatinine concentration, Chorioretinal coloboma	OMIM:619111
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegal...	ORPHA:731
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation	ORPHA:3412
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Microcephaly, Postnatal...	OMIM:206900
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Irritabil...	OMIM:257200
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Hyperparathyroidism, Transient Neonatal	Ovarian cyst, Enlarged kidney, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ...	OMIM:618935
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-po...	OMIM:304790
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Eleva...	ORPHA:230
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr...	ORPHA:49041
3-Methylglutaconic Aciduria, Type I	Short attention span, Urinary incontinence, Optic atrophy, Dementia, 3-Methylglutaconic aciduria,...	OMIM:250950
Meacham Syndrome	Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic...	OMIM:608978
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Polysplenia	OMIM:200995
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Optic atrophy, Renal steatosis, Fas...	OMIM:261680
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Lymphatic Filariasis	Proteinuria, Abnormality of the kidney, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality ...	ORPHA:2035
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Cln3 Disease	Left ventricular hypertrophy, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Depr...	ORPHA:228346
Stt3B-Cdg	Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia	ORPHA:370924
Aapoaiv Amyloidosis	Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep...	ORPHA:439232
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Optic atrophy, Hyperammon...	ORPHA:27
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Abno...	ORPHA:29073
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Hepatomegaly, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
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
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulati...	OMIM:603553
Orthostatic Hypotension 2	Orthostatic hypotension, Hypoglycemia, Anemia, Decreased glomerular filtration rate	OMIM:618182
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Ly...	ORPHA:99812
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Roifman Syndrome	Retinal dystrophy, Eosinophilia, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Congenital Disorder Of Glycosylation, Type Ix	Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia	OMIM:615597
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Rhizomelia, Macrocephaly	OMIM:615877
Cold Agglutinin Disease	Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Cerebrooculonasal Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Postnatal grow...	OMIM:605627
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Roifman Syndrome	Hepatomegaly, Retinal dystrophy, Eosinophilia, Splenomegaly, Lymphadenopathy	OMIM:616651
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Severe short stature, Edema, Lymphedema, Microcephaly, Chylothorax, Microphthalmia,...	ORPHA:2526
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Optic atrophy, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia	OMIM:614739
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto...	ORPHA:824
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow ...	ORPHA:381
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Hypoalbumine...	OMIM:608104
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Megaloblastic anemia, O...	OMIM:222300
Meckel Syndrome	Encephalocele, Anophthalmia, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum...	ORPHA:564
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentrat...	OMIM:610377
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly,...	ORPHA:98850
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Diffuse Alveolar Hemorrhage	Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Hematuria, Thro...	ORPHA:90060
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent...	ORPHA:160
Microphthalmia, Syndromic 9	Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ...	OMIM:601186
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia, Fused labia minora, Optic atrophy, Elevated urinary 5-amino-4-imidazo...	OMIM:608688
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi...	OMIM:251000
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Optic atrophy, Hyperammonemia, Hyperalaninemia	OMIM:614702
Middle Ear Neuroendocrine Tumor	Facial palsy, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor	ORPHA:100084
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Proteinuria, Hypoglycemia, Neph...	OMIM:616026
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Irritability, Bicornuate uterus, Hy...	ORPHA:79328
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno...	ORPHA:2686
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Boutonneuse Fever	Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:83313
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Reti...	ORPHA:500095
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Decreased ...	OMIM:618885
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepa...	OMIM:260920
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox...	OMIM:146255
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Hy...	ORPHA:97289
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T...	ORPHA:540
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Lymphadenopathy, Ovarian neoplasm...	ORPHA:83469
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato...	OMIM:619750
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:85414
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers, Elevated c...	OMIM:223900
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu...	OMIM:252500
Holoprosencephaly	Encephalocele, Anophthalmia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Spinal dysr...	ORPHA:2162
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Papa Syndrome	Type I diabetes mellitus, Proteinuria, Lymphadenopathy	ORPHA:69126
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia, Nephrotic s...	ORPHA:93552
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin...	ORPHA:90038
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Pate...	OMIM:618280
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch...	ORPHA:514
Ogden Syndrome	Global glomerulosclerosis, Maternal diabetes, Cardiomegaly, Cryptorchidism, Hydrocele testis, Irr...	OMIM:300855
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Adult-Onset Still Disease	Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-reactive protein ...	ORPHA:829
Cockayne Syndrome Type 1	Postnatal growth retardation, Basal ganglia calcification, Anophthalmia	ORPHA:90321
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Hy...	OMIM:617053
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Decreased nerve...	OMIM:214500
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Recurrent urinary tract infections, Confusion, Elevated circulating creatine...	ORPHA:36234
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Delirium, Retinal dege...	ORPHA:79282
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Holoprosencephaly 9	Anophthalmia, Short stature, Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Pa...	OMIM:610829
Car T Cell Therapy-Associated Cytokine Release Syndrome	Confusion, Elevated circulating creatinine concentration, Hyperbilirubinemia, Acute kidney injury...	ORPHA:542323
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Fasting hypoglycemia	OMIM:613027
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Dementia, Hypo...	ORPHA:1173
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Proteinu...	OMIM:619487
Opticocochleodentate Degeneration	Mental deterioration, Optic atrophy	OMIM:258700
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Renal insufficiency, Hypoglycemia, Elevated circulating creatine ki...	ORPHA:99826
Felty Syndrome	Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Thrombocytopenia, Lymphadenopathy...	ORPHA:47612
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Confusion, Depression, Hepatosplenomegaly, Oligosacchariduria	ORPHA:309288
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Oligosacchariduria, Facial palsy, Lymphadenopathy	ORPHA:2483
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Abnormality of the lymphatic system, O...	ORPHA:538
Nephroblastoma	Hematuria, Nephroblastoma, Lymphadenopathy	ORPHA:654
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Facial palsy, Cryptorchidism, Enuresis nocturna, Irritability...	OMIM:615873
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr...	ORPHA:91500
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Hypoplasia of ...	OMIM:615636
Cerebral Visual Impairment	Optic disc pallor, Short attention span, Optic nerve hypoplasia, Optic atrophy, Retinopathy of pr...	ORPHA:447788
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Abnormal retina...	ORPHA:33226
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Abno...	ORPHA:100093
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Lymph...	ORPHA:167
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Cryptorchidism, Abnormal optic disc morphology, Shawl scrotum,...	OMIM:617516
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Enlarged kidney, Cardiomegaly	OMIM:261740
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Neutropenia...	ORPHA:520
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Enlarged kidney	OMIM:306955
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia	ORPHA:293173
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,...	OMIM:616843
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca...	ORPHA:96180
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Stage 5 chronic kidney...	OMIM:268315
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Umbilical hernia, Anophthalmia	ORPHA:1101
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Charge Syndrome	Anophthalmia, Short stature, Polyhydramnios, Microcephaly, Postnatal growth retardation, Delayed ...	ORPHA:138
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Renal artery aneurysm, Elevated circulating C-reactive protein concen...	OMIM:615688
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Le...	OMIM:615895
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Bilateral cryptorchidism, Optic atrophy, Hypochromic microcytic anemia, Peri...	ORPHA:66634
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Hypoplasia of the olfactory bulb	ORPHA:2250
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Growth delay, Microphthalmia,...	ORPHA:2538
Fibular Hemimelia	Anophthalmia, Spina bifida	ORPHA:93323
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani...	OMIM:616959
Legionnaires Disease	Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Bone ma...	ORPHA:549
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum, Short stature	ORPHA:264200
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic syndr...	ORPHA:139402
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo...	ORPHA:37042
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis	ORPHA:79456
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Confusion, Glomerulonephritis, Thrombocytopenia, Leukocytosis, Chronic kidne...	ORPHA:340
Poems Syndrome	Papilledema, Diabetes mellitus, Lymphadenopathy, Hypogonadism, Thrombocytosis, Polycythemia, Visc...	ORPHA:2905
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, Mucopolysaccharid...	ORPHA:585
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at...	OMIM:259710
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology	OMIM:219750
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Epididymitis, Lymph node hypoplasia, T lymphocytopenia, B lym...	OMIM:300755
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoa...	OMIM:617913
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentar...	ORPHA:436271
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc...	OMIM:615751
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Hypocalc...	OMIM:259700
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Facial palsy, Spleno...	OMIM:259720
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Splenomegaly, Lymphadenopathy, He...	ORPHA:36412
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thr...	ORPHA:79124
Wolfram Syndrome 2	Neurogenic bladder, Diabetes mellitus, Optic neuropathy, Optic atrophy, Depression	OMIM:604928
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Aganglionic megacolon, Lymphadenopathy	ORPHA:3386
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypogonadotropic hypogonadism, Microcytic anemia, Cryptorchidism, Insulin-resistant diabetes mell...	ORPHA:293967
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Scrub Typhus	Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia,...	OMIM:617591
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Severe short stature, Absent septum pellucidum, Microcephaly, Growth delay, Microph...	ORPHA:2556
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ...	ORPHA:98813
Kaposi Sarcoma	Abnormality of the spleen, Generalized lymphadenopathy, Abnormal retinal morphology	ORPHA:33276
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Tangier Disease	Orange discolored tonsils, Peripheral axonal neuropathy, Hypertriglyceridemia, Chronic noninfecti...	ORPHA:31150
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentar...	OMIM:220110
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacolon, Abnormal hemoglob...	ORPHA:847
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Glomerulonephritis, Elevated circulating C-reactive pr...	ORPHA:1304
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cervical lymphadenopath...	OMIM:602782
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Macular atrophy, Neonatal hyp...	OMIM:619418
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Optic atroph...	OMIM:618329
Wolfram Syndrome	Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Optic atrophy, Male hypogonadism,...	ORPHA:3463
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	ORPHA:50918
Fraser Syndrome 1	Encephalocele, Anophthalmia, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Bilatera...	OMIM:219000
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the spleen, Optic atrophy,...	ORPHA:991
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Microphthalmia, Syndromic 2	Anophthalmia, Short stature, Microcephaly, Umbilical hernia, Hypoplasia of the corpus callosum, M...	OMIM:300166
Coccidioidomycosis	Renal insufficiency, Abnormal sperm morphology, Abnormal retinal morphology, Abscess, Eosinophili...	ORPHA:228123
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Depression, Lymphadenopathy, Leukopenia, ...	ORPHA:536
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr...	ORPHA:2785
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph...	OMIM:615934
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Splenomegaly, Cryptorchidism, Renal cyst, Duplication of renal pelvis,...	OMIM:312870
Graft Versus Host Disease	Lymphadenopathy, Hepatosplenomegaly, Irritability, Hemophagocytosis, Hyperbilirubinemia	ORPHA:39812
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Depression, Dementia, Type II diabetes mellitus, Memory impairment	OMIM:604121
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Optic neuropathy, Retinal cryst...	OMIM:259900
Autosomal Dominant Hypocalcemia	Optic atrophy, Hypercalciuria, Depression, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hyp...	ORPHA:428
Focal Dermal Hypoplasia	Anophthalmia, Short stature, Microcephaly, Myelomeningocele, Umbilical hernia, Aniridia, Micropht...	OMIM:305600
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni...	ORPHA:3337
Biotinidase Deficiency	Hepatomegaly, Splenomegaly, Optic atrophy, Hyperammonemia, Organic aciduria	OMIM:253260
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy	ORPHA:79140
Primary Hyperoxaluria	Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol...	ORPHA:416
Fraser Syndrome	Encephalocele, Anophthalmia, Microcephaly, Myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:2052
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Macrocephaly, Microphthalmia, Abnormal corpus callosum morp...	ORPHA:141099
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Renal hypoplasia, Hypopla...	OMIM:619321
Juvenile Glaucoma	Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho...	ORPHA:98977
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Vaginal dryness, Abnormality of the kidney, Glomeruloneph...	ORPHA:289390
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Neoplasm of the ...	ORPHA:99889
Medullary Thyroid Carcinoma	Pheochromocytoma, Lymphadenopathy	ORPHA:1332
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ...	ORPHA:892
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Familial Pancreatic Carcinoma	Diabetes mellitus, Lymphadenopathy, Hepatosplenomegaly, Ovarian carcinoma, Peritoneal abscess	ORPHA:1333
Microphthalmia, Syndromic 6	Anophthalmia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Aplasia of the optic tract...	OMIM:607932
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Hepatomegaly...	ORPHA:90324
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg...	ORPHA:556
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Charge Syndrome	Anophthalmia, Polyhydramnios, Microcephaly, Postnatal growth retardation, Unilateral microphthalm...	OMIM:214800
Cardiogenic Shock	Elevated circulating creatinine concentration, Confusion, Oliguria	ORPHA:97292
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Branchiooculofacial Syndrome	Agenesis of cerebellar vermis, Anophthalmia, Microcephaly, Postnatal growth retardation, Branchia...	OMIM:113620
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Hypercalcemia, Facial palsy, Eosinophilia, A...	ORPHA:797
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo...	OMIM:607944
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Igg4-Related Ophthalmic Disease	Abnormal fifth cranial nerve morphology, Elevated circulating C-reactive protein concentration, A...	ORPHA:449563
Arima Syndrome	Hepatomegaly, Retinal dystrophy, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney dis...	OMIM:243910
Farber Disease	Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Macular degeneration, Cherry red spot of t...	ORPHA:333
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
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
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Autoimmune thro...	ORPHA:331235
Behçet Disease	Glomerulopathy, Renal insufficiency, Confusion, Orchitis, Splenomegaly, Retrobulbar optic neuriti...	ORPHA:117
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Hyperlipidemia,...	OMIM:232240
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Leptospirosis	Papilledema, Hepatomegaly, Cellular urinary casts, Retinal hemorrhage, Lymphadenopathy, Chorioret...	ORPHA:509
Hennekam Syndrome	Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphadenopathy, Hypo...	ORPHA:2136
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Paraganglioma, Anemia	ORPHA:139411
Bardet-Biedl Syndrome 20	Papilledema, Proteinuria, Bilateral cryptorchidism, Male hypogonadism, Retinal vascular tortuosit...	OMIM:619471
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy	ORPHA:343
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Optic atrophy, Renal cyst, Rod-cone dystrophy	OMIM:601539
Blau Syndrome	Clear cell renal cell carcinoma, Facial palsy, Abnormal retinal vascular morphology, Splenomegaly...	ORPHA:90340
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoi...	ORPHA:100080
Yellow Fever	Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinase concentration, Le...	ORPHA:99829
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology	ORPHA:677
Multiple Endocrine Neoplasia Type 2	Multiple mucosal neuromas, Paraganglioma of head and neck, Cervical neoplasm, Aganglionic megacol...	ORPHA:653
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Proteinuria, Confusion, Elevated circulating creatine k...	ORPHA:99827
Familial Mediterranean Fever	Proteinuria, Orchitis, Splenomegaly, Lymphadenopathy, Nephrocalcinosis, Nephrotic syndrome, Nephr...	ORPHA:342
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Optic atrophy, Hypocalcemic seizures, Optic nerve compression, Anemia	OMIM:612301
Microphthalmia With Limb Anomalies	Microphthalmia, Short stature, True anophthalmia	ORPHA:1106
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein conce...	ORPHA:100085
Q Fever	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Hematuria, Gra...	ORPHA:781
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Neutrophilia, Confusion, Thrombocytosis, Eosinophilia, Splenomegaly,...	ORPHA:3260
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Eosinophilia, Lymphadenopathy, Prostatitis	ORPHA:449432
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia	ORPHA:1572
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal insufficiency, Retinal dystrophy, Hypospadias, Subretinal deposits, Renal cortical cysts, A...	ORPHA:397715
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leukocytosis, Lymp...	ORPHA:32960
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoi...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoi...	ORPHA:100082
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Optic nerve compress...	ORPHA:667
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Abnormal renal morphology	OMIM:616562
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Small intestine carcinoid, Hydronephrosis, Lymphadenopathy	ORPHA:100078
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Leukocytosis, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Hepatomegaly	OMIM:620233
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Iron deficiency anemia, Paraganglioma, Atypi...	ORPHA:100075
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Increase...	OMIM:615846
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Thrombocytopenia, Cryptorchidism, Ur...	OMIM:305000
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Cancer-Associated Retinopathy	Optic disc pallor, Retinal pigment epithelial atrophy, Retinal atrophy, Testicular neoplasm, Fove...	ORPHA:71505
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Optic nerve hypoplasia, Facial palsy, Renal agenesis, Renal hypoplasia, Horseshoe ki...	ORPHA:508498
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Impaired glucose tol...	OMIM:256040
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Enuresis, Abnormal optic disc morphology,...	ORPHA:96121
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Hepatomegaly, Renal insufficiency, Conjugated hyperbilirubinemia, Splenomegaly, Incre...	OMIM:619534
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy, Tubulointerstitial nephritis, Abnormal optic nerve morphology, Optic nerve compr...	ORPHA:79078
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Splenomegaly, Mediasti...	OMIM:181000
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen...	ORPHA:284339
Chikungunya	Peripheral nerve compression, Cervical lymphadenopathy, Depression, Lymphadenopathy, Neuritis	ORPHA:324625
Kawasaki Disease	Proteinuria, Leukocytosis, Cervical lymphadenopathy, Sterile pyuria, Irritability	ORPHA:2331
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Microphthalmia, Syndromic 1	Growth delay, Microphthalmia, Anophthalmia, Microcephaly	OMIM:309800
Pineoblastoma	Papilledema, Progressive neurologic deterioration, Cognitive impairment, Memory impairment, Retin...	ORPHA:251909
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Branchial anomaly, Microphthalmia, Agenesis of corpus call...	OMIM:164210
African Trypanosomiasis	Papilledema, Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Hepatosplenom...	ORPHA:3385
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy	ORPHA:100086
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Micr...	ORPHA:64
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016

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 Zfp503

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 Zfp503.

No publications found that use IMPC mice or data for Zfp503.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Zfp503^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Zfp503^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Zfp503^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Zfp503^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Zfp503^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue

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: Zfp503 MGI:1353644

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Zfp503 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 20.1 Data