Gene Summary

Name:
zinc finger protein 503
Synonyms:
Nolz1,  Zpo2,  B830002A16Rik,  Nolz-1,  ZNF503

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
anophthalmia Zfp503em1(IMPC)Mbp HOM E15.5 0.00
edema Zfp503em1(IMPC)Mbp HET E15.5 0.00
embryonic growth retardation Zfp503em1(IMPC)Mbp HOM E15.5 0.00
abnormal embryo size Zfp503em1(IMPC)Mbp HOM E15.5 0.00
abnormal lymph node morphology Zfp503em1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Zfp503em1(IMPC)Mbp HET Early adult 0.00
abnormal male genitalia morphology Zfp503em1(IMPC)Mbp HET   Early adult 2.74×10-07
microcephaly Zfp503em1(IMPC)Mbp HOM E15.5 0.00
enlarged lymph nodes Zfp503em1(IMPC)Mbp HET Early adult 0.00
abnormal optic disk morphology Zfp503em1(IMPC)Mbp HET Early adult 2.40×10-13
abnormal kidney morphology Zfp503em1(IMPC)Mbp HET Early adult 0.00
increased exploration in new environment Zfp503em1(IMPC)Mbp HET Early adult 1.08×10-05
decreased circulating creatinine level Zfp503em1(IMPC)Mbp HET Early adult 4.31×10-07
edema Zfp503em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Zfp503em1(IMPC)Mbp HOM   Early adult 0.00
decreased circulating glucose level Zfp503em1(IMPC)Mbp HET Early adult 4.08×10-06
increased basophil cell number Zfp503em1(IMPC)Mbp HET Early adult 2.81×10-05
decreased grip strength Zfp503em1(IMPC)Mbp HET Early adult 9.40×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Morphology Embryo E14.5-E15.5

Images

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Lissencephaly, X-Linked, 1
Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lisse... OMIM:300067
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Angioedema, Hereditary, 5
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619361
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy... OMIM:611603
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Pol... OMIM:604213
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly... OMIM:616570
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Depression, Type II diabetes mellitus, Optic disc pallor, Diabetes mellitus, Impai... OMIM:614296
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Band Heterotopia
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Gray matter heterotopi... OMIM:600348
Ribose 5-Phosphate Isomerase Deficiency
Increased level of ribose in urine, Optic atrophy, Increased level of D-threitol in urine, Elevat... OMIM:608611
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy, Abnormal oral glucose tolerance OMIM:311100
Ceroid Lipofuscinosis, Neuronal, 9
Psychomotor deterioration, Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy OMIM:609055
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... OMIM:619902
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Congenital Varicella Syndrome
Cerebral cortical atrophy, Intrauterine growth retardation, Microcephaly, Microphthalmia ORPHA:291
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Microcephaly, Microphthalmia, Pericardial e... OMIM:613885
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Oculocerebrocutaneous Syndrome
Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital encephaloce... OMIM:164180
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Neonatal death OMIM:614870
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Wolfram-Like Syndrome
Optic atrophy, Male hypogonadism, Depression, Glucose intolerance, Peripheral axonal neuropathy, ... ORPHA:411590
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Confusion, Renal insufficiency, Reticuloc... ORPHA:54057
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema OMIM:189800
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Lymphatic Malformation 3
Lymphedema OMIM:613480
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ... ORPHA:90301
White Sponge Nevus 2
Edema OMIM:615785
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea n... OMIM:617872
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte... ORPHA:300573
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Lymphadenop... OMIM:603552
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Hyperlipi... OMIM:232220
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... OMIM:604317
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Chorioretinal hypopigmentation, O... OMIM:617303
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Mental deterioration, Retinal dystrophy OMIM:614706
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... ORPHA:85450
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Abnormal retinal morphology on macular OCT, Proteinuria, E... ORPHA:251004
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Increased total bilirubin, Hypoglycemia, Elevated circulating creatinine concent... OMIM:608836
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune thrombocytope... ORPHA:444463
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Hyperlipi... OMIM:232200
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system,... ORPHA:54251
Hydrolethalus
Absent septum pellucidum, Anophthalmia, Agenesis of corpus callosum, Microphthalmia, Polyhydramni... ORPHA:2189
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum ORPHA:411986
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
H Syndrome
Histiocytosis, Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Microcyt... ORPHA:168569
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Polymicrogyria, Abnormal cortical gyration, Neonatal death OMIM:619602
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Partial agenesis of ... OMIM:616212
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Lymphatic Malformation 10
Lymphedema OMIM:619369
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Abnormal ... OMIM:598500
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Decreased pr... ORPHA:543
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Irritability, Hyposthenuria, Red... OMIM:300539
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Agenesis of corpus callosum, Neonatal death, Agyria, Lissencephaly OMIM:616342
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypoglycemia, Hypop... OMIM:276700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Hematuria, Retinal detachment, Macular dege... OMIM:120330
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Papilledema, Eosinophilia, Lymphadenopathy, Elevated ci... OMIM:607115
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Anophthalmia, Agenesis of corpus callosum, Microcephaly, M... ORPHA:139471
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Abnormality of the kidney, Hypoplasia of the uterus, Hypospadias, ... OMIM:137920
Solitary Median Maxillary Central Incisor
Short stature, Microcephaly, Anophthalmia, Microphthalmia OMIM:147250
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Trisomy 13
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Hy... ORPHA:3378
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Hematuria, Prostatitis, Elevated circulating C... ORPHA:449395
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,... OMIM:209950
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cognitive impairment ORPHA:2246
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Depression, Retinal degeneration, Irritability, Vacuolated l... OMIM:256730
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Absent septum pellucidum, Anophthalmi... ORPHA:899
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray matter heterotop... ORPHA:101030
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Cog... ORPHA:858
3-Methylglutaconic Aciduria, Type Iii
3-Methylglutaric aciduria, Optic atrophy, Cognitive impairment, 3-Methylglutaconic aciduria OMIM:258501
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Preeclampsia
Chronic kidney disease, Acute kidney injury, Type I diabetes mellitus, Elevated circulating creat... ORPHA:275555
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Peripheral demyelination, Left ventricular hypertr... OMIM:616733
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal lymphatic vessel morphology, Abnormality of the lympha... ORPHA:464329
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Hyperammonemia, Hypoglycemia ORPHA:664
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Trisomy 1Q
Increased nuchal translucency, Anophthalmia, Agenesis of corpus callosum, Cerebellar hypoplasia, ... ORPHA:261344
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Hypoglycemic seizures, Hypoglycemia, Stage 5 chronic kidney disease, Hyperlipid... ORPHA:79259
Spastic Paraplegia, Optic Atrophy, And Dementia
Dementia, Optic atrophy, Optic disc pallor OMIM:182830
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy, Dementia, Vacuolat... OMIM:204200
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Papillary renal cell carcinoma, Chronic noninfectious lymphadenop... ORPHA:97290
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmun... OMIM:603909
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Hematuria, Pro... OMIM:614034
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Mental deterioration, Steroid-resistant neph... OMIM:617575
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia ORPHA:1104
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosi... OMIM:613179
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum OMIM:617622
Rhabdoid Tumor
Renal neoplasm, Irritability, Hematuria, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:69077
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Papilledema, Anemi... OMIM:620366
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... ORPHA:91547
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Elevated circulating carcinoembryonic antigen concentration, Chronic non... ORPHA:100083
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Renal insufficiency, Hyperammonemia, Splenomegaly, Anemia, Neutropenia, Thrombocyt... ORPHA:79312
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Agenesis of corpu... ORPHA:89844
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Increased level of gala... ORPHA:79237
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... OMIM:620211
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Microphthalmia, Syndromic 5
Short stature, Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Growth delay, Anophthalmia, Agenesis of corpus callosum ORPHA:77298
Matthew-Wood Syndrome
Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:2470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy, Bone marrow hypocellularity, Heparan sulfate excretion in urine, ... ORPHA:505248
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Optic atrophy, Increased level of methylsuccini... ORPHA:26792
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Elevated circulating creatinine con... OMIM:274150
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Hepatomegaly, Monocytosis, Lymphadenop... OMIM:619644
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Optic atrophy, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megalobla... OMIM:249270
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:235400
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Normocytic anemia, Macular edema, Depression, Memory impairment, Elevated circulatin... ORPHA:247691
46,Xy Sex Reversal 4
Renal dysplasia, Gonadal dysgenesis, Elevated circulating creatinine concentration, Ureteropelvic... OMIM:154230
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia, Subcortical white matter calcifications ORPHA:90322
Sarcosinemia
Optic atrophy, Emotional lability, Hypersarcosinuria, Hypersarcosinemia ORPHA:3129
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Hsd10 Mitochondrial Disease
Optic atrophy, Hypoglycemia, Retinal degeneration, Elevated circulating tiglylglycine concentrati... OMIM:300438
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splen... ORPHA:3226
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Aregenerative Anemia
Bone marrow hypocellularity, Depression, Dementia, Pancytopenia, Decreased proportion of CD4-posi... ORPHA:101096
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Splenomegaly, Retinal degeneration, Cone/cone-rod dystrophy, Rod-cone dystrophy OMIM:602271
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Clitoral hypertrophy, Long penis, Nephrocalcinosi... ORPHA:508
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:614376
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,... OMIM:130650
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Confusion, Abnormal nasopharyngeal ad... ORPHA:3392
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Splenom... OMIM:301078
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera... ORPHA:457205
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Anemia, Neutropeni... ORPHA:289916
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia OMIM:261750
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Polysplenia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, ... OMIM:208540
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, R... OMIM:301110
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction, Renal insufficiency, Diffuse mesangial sclerosis,... OMIM:249660
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Anemia, ... ORPHA:507
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Hypoglycemia, Hyperammonemia, Irritability, Neutropenia, Progressive neurologic de... OMIM:618253
Cinca Syndrome
Abnormality of neutrophils, Pseudopapilledema, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, ... ORPHA:1451
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho... ORPHA:319487
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly, Optic disc ... OMIM:611490
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista... OMIM:262190
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis... ORPHA:276280
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Cach Syndrome
Optic atrophy, Renal hypoplasia, Gonadal dysgenesis, Hepatosplenomegaly, Irritability, Optic neur... ORPHA:135
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, He... ORPHA:2035
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Emotional lability, Decreased nerve conduction velocity ORPHA:98890
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Anemia, Eosinophilia, Glomerul... OMIM:304790
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Death in childhood, Death in infa... OMIM:614643
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Coach Syndrome 2
Elevated circulating creatinine concentration, Chorioretinal coloboma, Hyperechogenic kidneys OMIM:619111
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Facial palsy OMIM:615085
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Polycythemia, Hypoglycemia, Vesicoureteral reflux, Cryptorchidism, Ne... ORPHA:116
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic a... OMIM:618495
Propionic Acidemia
Hepatomegaly, Hyperammonemia, Organic aciduria, Hypoglycemia ORPHA:35
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Growth delay, Anophthalmia, Microphthalmia OMIM:206920
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Varicocele, Acute kidney injury, Elevated circulating creatinine concentration... ORPHA:49041
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... ORPHA:439232
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Hypospa... OMIM:612651
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... ORPHA:731
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Vacterl With Hydrocephalus
Intrauterine growth retardation, Anophthalmia, Spina bifida, Microphthalmia, Polyhydramnios ORPHA:3412
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Hepatomegaly, Optic disc pallor, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Microphthalmia, Syndromic 3
Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Hypoplasia of the corpus callosu... OMIM:206900
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... ORPHA:230
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Immunodeficiency 10
Hypoglycemia, Recurrent urinary tract infections, Splenomegaly, Autoimmune hemolytic anemia, Abno... OMIM:612783
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidat... OMIM:618935
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Cherry red spot of the macula, Microcytic anemia, Splenomegaly, Irritabil... OMIM:257200
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Unilateral renal agenesis, Enlarged kidney, Ovarian cyst OMIM:618188
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... ORPHA:277
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Ketonuria, Hypoglycemia, Renal steatosis, Low plasma citrulline, Fasting hypoglyce... OMIM:261680
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, He... ORPHA:158061
Stt3B-Cdg
Small scrotum, Optic atrophy, Cryptorchidism, Thrombocytopenia, Micropenis ORPHA:370924
3-Methylglutaconic Aciduria, Type I
Optic atrophy, Dementia, Short attention span, 3-Methylglutaconic aciduria, Cognitive impairment,... OMIM:250950
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:2584
Meacham Syndrome
Accessory spleen, Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus... OMIM:608978
Lig4 Syndrome
Acute leukemia, Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Leukocytosis, Lymphadeno... ORPHA:99812
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Polysplenia, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... OMIM:603554
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Anemia, Thromb... ORPHA:27
Mody
Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hy... ORPHA:552
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Optic atrophy, Cryptorchidism, Thrombocytopenia, Micropenis OMIM:615597
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Roifman Syndrome
Hepatosplenomegaly, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Retinal dystrophy ORPHA:353298
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, Ly... ORPHA:29073
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Inguinal lymphadenopathy, Cervical lymphad... OMIM:620514
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Cryptorchidism, Hepatomegaly, Thr... OMIM:608104
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... OMIM:123550
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia OMIM:608184
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Thrombocytop... ORPHA:90060
Tafro Syndrome
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Hepatomegaly, Anemia, Lympha... ORPHA:457077
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Orthostatic Hypotension 2
Anemia, Decreased glomerular filtration rate, Orthostatic hypotension, Hypoglycemia OMIM:618182
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia, Macrocephaly OMIM:615877
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy... ORPHA:39041
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopath... OMIM:615122
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Postnatal growth retardation, Encephalocele, Hypoplasia of the corp... OMIM:605627
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia OMIM:614739
Griscelli Syndrome
Bone marrow hypocellularity, Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, ... ORPHA:381
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Roifman Syndrome
Splenomegaly, Eosinophilia, Lymphadenopathy, Hepatomegaly, Retinal dystrophy OMIM:616651
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Castleman Disease
Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Hematuria, Anemia, Generalized... ORPHA:160
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microcephaly, Micr... ORPHA:2526
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Attenuation of retinal blood vessels, Leukocytosis,... OMIM:610377
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Hydroureter, Sideroblastic anemia, Hydronephrosis, Neuroge... OMIM:222300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy OMIM:609981
Fetal Cytomegalovirus Syndrome
Optic atrophy, Chorioretinitis, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia, Retinal hem... ORPHA:294
Meckel Syndrome
Aplasia/Hypoplasia of the corpus callosum, Oligohydramnios, Encephalocele, Anophthalmia, Aplasia/... ORPHA:564
Aica-Ribosiduria Due To Atic Deficiency
Optic atrophy, Clitoral hypertrophy, Hypoglycemia, Hyponatremia, Fused labia minora, Elevated uri... OMIM:608688
Adult-Onset Still Disease
Bone marrow hypocellularity, Abnormal circulating lipid concentration, Increased circulating ferr... ORPHA:829
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypoglycemia, Hyperammonemia, Cardiomegaly, Hyperalaninemia OMIM:614702
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholestero... OMIM:618885
Microphthalmia, Syndromic 9
Severe short stature, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, Sh... OMIM:601186
Desmoplastic Small Round Cell Tumor
Anemia, Lymphadenopathy, Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Mediastinal lymphad... ORPHA:83469
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Emotional lability, Glomerular sclerosis, Orthosta... OMIM:223900
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Agenesis of corpus callosum, Colpocephaly, Gray matter heterotopia, Lissencephaly, Simplified gyr... OMIM:615219
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Mediastinal lymphadenopathy, Neuroendocrine neoplasm, Neoplasm of the th... ORPHA:97289
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno... OMIM:618280
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Middle Ear Neuroendocrine Tumor
Facial palsy, Neuroendocrine neoplasm, Carcinoid tumor, Chronic noninfectious lymphadenopathy ORPHA:100084
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Type I diabetes mellitus, Splenomegaly, Autoimmune hemolytic anemia, Optic neuritis, Lymphadenopa... ORPHA:436159
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... ORPHA:411634
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum ORPHA:255138
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hypoglycemia, Hyperphosphaturia, Prote... OMIM:616026
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve... OMIM:260920
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Uterus didelphy... OMIM:146255
Alg9-Cdg
Hypoplasia of the bladder, Abnormal renal artery morphology, Irritability, Hydronephrosis, Hypopl... ORPHA:79328
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... ORPHA:2686
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Transient neutropenia, Nephroblasto... ORPHA:500095
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:540
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating amyloid A concentrat... OMIM:619750
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomeg... OMIM:252500
Papa Syndrome
Proteinuria, Type I diabetes mellitus, Lymphadenopathy ORPHA:69126
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Lymphopenia, Leu... ORPHA:93552
Ogden Syndrome
Polycythemia, Decreased testicular size, Hyperbilirubinemia, Cryptorchidism, Irritability, Cardio... OMIM:300855
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Ele... OMIM:618048
Mirage Syndrome
Microphallus, Recurrent urinary tract infections, Hypoglycemia, Decreased testicular size, Lympho... OMIM:617053
Acalvaria
Abnormality of neuronal migration ORPHA:945
Holoprosencephaly
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Branchial anomaly, Encephalocele, A... ORPHA:2162
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Acute Monoblastic/Monocytic Leukemia
Oliguria, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L... ORPHA:514
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Optic atrophy, Decreased testicular size, Normochromic microcytic anem... OMIM:610198
Cockayne Syndrome Type 1
Postnatal growth retardation, Anophthalmia, Basal ganglia calcification ORPHA:90321
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Mental deterioration, Peripheral demyelination, Hypomethioninemia, Neutropenia, Delirium, Macular... ORPHA:79282
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia... ORPHA:542323
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio... ORPHA:36234
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100026
Chiari Malformation Type Ii
Gray matter heterotopia, Agenesis of corpus callosum OMIM:207950
Chediak-Higashi Syndrome
Hemophagocytosis, Ocular albinism, Decreased nerve conduction velocity, Leukopenia, Giant neutrop... OMIM:214500
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Attention defi... OMIM:618195
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Hypogonadism, Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, ... ORPHA:1173
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Hypoglycemia, Elevated circulating creati... ORPHA:99826
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating propionylcarnitine concentr... OMIM:251110
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Chronic noninfectious lymphadenopa... ORPHA:100093
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Lymphangioleiomyomatosis
Optic atrophy, Abnormal urinary color, Abnormal morphology of female internal genitalia, Pulmonar... ORPHA:538
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Fasting hypoglycemia, Hypertriglyceridemia, Hepatomegaly OMIM:613027
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Wolfram Syndrome 2
Optic atrophy, Depression, Neurogenic bladder, Optic neuropathy, Diabetes mellitus OMIM:604928
Vici Syndrome
Gray matter heterotopia, Death in infancy, Agenesis of corpus callosum ORPHA:1493
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:370959
Opticocochleodentate Degeneration
Optic atrophy, Mental deterioration OMIM:258700
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Optic atrophy, Thickened glomerular basement membrane, Recurrent urinary tract i... OMIM:619487
Tubulointerstitial Nephritis And Uveitis Syndrome
Retinal vasculitis, Elevated circulating C-reactive protein concentration, Tubulointerstitial nep... ORPHA:91500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Hepatosplenomegal... OMIM:606367
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Cryptorchidism, Irritability, Attention de... OMIM:615873
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized ly... OMIM:614700
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Alpha-Mannosidosis, Adult Form
Depression, Oligosacchariduria, Confusion, Hepatosplenomegaly, Pancytopenia, Optic disc pallor ORPHA:309288
Felty Syndrome
Bone marrow hypocellularity, Recurrent urinary tract infections, Abnormal lymphocyte morphology, ... ORPHA:47612
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Nephroblastoma
Hematuria, Lymphadenopathy, Nephroblastoma ORPHA:654
Stankiewicz-Isidor Syndrome
Cryptorchidism, Abnormal optic disc morphology, Shawl scrotum, Micropenis, Ureteral duplication, ... OMIM:617516
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thrombocytopenia... ORPHA:520
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia, Umbilical hernia ORPHA:1101
Neuroblastoma
Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Elevated urinar... ORPHA:635
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Neonatal hypoglycemia, Enlarged kidney OMIM:261740
Waldenstr├Âm Macroglobulinemia
Normocytic anemia, Memory impairment, Leukemia, Renal insufficiency, Splenomegaly, Hepatomegaly, ... ORPHA:33226
Joubert Syndrome 21
Occipital encephalocele, Hypoplasia of the brainstem, Anophthalmia, Encephalocele, Hypoplasia of ... OMIM:615636
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Elevated circulating glutaric acid concentration, Bilateral cryptorchidism, Normoc... ORPHA:66634
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Type I diabetes mellitus, Depression, Hypocholesterolemia,... ORPHA:96180
Cerebral Visual Impairment
Optic atrophy, Short attention span, Attention deficit hyperactivity disorder, Retinopathy of pre... ORPHA:447788
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Renal insufficiency, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia ORPHA:293173
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Polysplenia, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Asplenia, Enlarged kidney OMIM:306955
Poems Syndrome
Visceromegaly, Polycythemia, Hypogonadism, Splenomegaly, Papilledema, Lymphadenopathy, Thrombocyt... ORPHA:2905
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751<