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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
enlarged lymph nodes	Zfp503^em1(IMPC)Mbp	HET	Early adult	0.00
increased exploration in new environment	Zfp503^em1(IMPC)Mbp	HET	Early adult	1.08×10^-05
decreased grip strength	Zfp503^em1(IMPC)Mbp	HET	Early adult	9.40×10^-05
abnormal male genitalia morphology	Zfp503^em1(IMPC)Mbp	HET	Early adult	2.74×10^-07
enlarged kidney	Zfp503^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal lymph node morphology	Zfp503^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Zfp503^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal embryo size	Zfp503^em1(IMPC)Mbp	HOM	E15.5	0.00
anophthalmia	Zfp503^em1(IMPC)Mbp	HOM	E15.5	0.00
edema	Zfp503^em1(IMPC)Mbp	HET	E15.5	0.00
microcephaly	Zfp503^em1(IMPC)Mbp	HOM	E15.5	0.00
decreased circulating creatinine level	Zfp503^em1(IMPC)Mbp	HET	Early adult	4.31×10^-07
decreased circulating glucose level	Zfp503^em1(IMPC)Mbp	HET	Early adult	4.08×10^-06
abnormal kidney morphology	Zfp503^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal optic disk morphology	Zfp503^em1(IMPC)Mbp	HET	Early adult	2.40×10^-13
embryonic growth retardation	Zfp503^em1(IMPC)Mbp	HOM	E15.5	0.00
edema	Zfp503^em1(IMPC)Mbp	HOM	E15.5	0.00
increased basophil cell number	Zfp503^em1(IMPC)Mbp	HET	Early adult	2.81×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 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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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 (740 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	Angioedema, Facial edema, Edema of the dorsum of hands	OMIM:619363
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Lissencephaly, X-Linked, 1	Agyria, Gray matter heterotopia, Death in infancy, Agenesis of corpus callosum, Pachygyria, 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	Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus ca...	ORPHA:101029
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Angioedema, Hereditary, 5	Angioedema, Facial edema, Edema of the dorsum of hands	OMIM:619361
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Lissencephaly 3	Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Lissenc...	OMIM:611603
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly	OMIM:615411
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Partial agenesis of the corp...	OMIM:604213
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Lissencephaly 1	Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly	OMIM:607432
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Microcephaly, Agenesis of corpus callosum, Edema, Cerebellar hypoplasia, Intraute...	OMIM:616570
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Wolfram-Like Syndrome, Autosomal Dominant	Optic atrophy, Depression, Impaired glucose tolerance, Type II diabetes mellitus, Diabetes mellit...	OMIM:614296
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Band Heterotopia	Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral ventricle dilatatio...	OMIM:600348
Ribose 5-Phosphate Isomerase Deficiency	Increased level of xylitol in urine, Optic atrophy, Decreased level of erythritol in urine, Incre...	OMIM:608611
Microlissencephaly	Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per...	ORPHA:1083
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
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	Optic atrophy, Vacuolated lymphocytes, Psychomotor deterioration, Rod-cone dystrophy	OMIM:609055
Edema, Familial Idiopathic, Prepubertal	Edema	OMIM:129840
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hepatosplen...	OMIM:619902
Anencephaly 2	Anencephaly, Anophthalmia	OMIM:619452
Congenital Varicella Syndrome	Microcephaly, Microphthalmia, Cerebral cortical atrophy, Intrauterine growth retardation	ORPHA:291
Meckel Syndrome, Type 8	Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Microcephaly, Pericardial e...	OMIM:613885
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Oculocerebrocutaneous Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbit...	OMIM:164180
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Agyria, Gray matter heterotopia, Pachygyria	ORPHA:1084
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	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	Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine concentration, Sta...	OMIM:161900
Wolfram-Like Syndrome	Optic atrophy, Glucose intolerance, Depression, Peripheral axonal neuropathy, Abnormality of the ...	ORPHA:411590
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort...	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	Microphthalmia, Anophthalmia	OMIM:611038
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Increased blood urea nitrogen, Glycosuria, Proteinuria, Renal inters...	OMIM:614817
Lymphatic Malformation 8	Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis	OMIM:618773
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Confusion, Reticulocytosis, Decreased serum creatinine, Thrombocy...	ORPHA:54057
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Lymphatic Malformation 3	Lymphedema	OMIM:613480
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, El...	OMIM:617056
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Insulin resistance, Polycystic ovaries, Insulin-res...	ORPHA:90301
White Sponge Nevus 2	Edema	OMIM:615785
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Hypergonadotropic hypogonadism, Increased blood urea ni...	OMIM:617872
C3 Glomerulopathy	Acute kidney injury, Hematuria, Drusen, Central serous chorioretinopathy, Yellow/white lesions of...	ORPHA:329918
Polymicrogyria Due To Tubb2B Mutation	Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Pachygyria, Lateral ventricl...	ORPHA:300573
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, ...	OMIM:603552
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi...	OMIM:232220
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt...	OMIM:604317
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Enlarged kidney, Hepatomegaly, Anemia, Focal segmental glomerulosclerosis, Nephrot...	OMIM:617303
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Mental deterioration, Retinal dystrophy	OMIM:614706
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti...	ORPHA:567544
Autosomal Recessive Primary Microcephaly	Agenesis of corpus callosum, Gray matter heterotopia, Pachygyria	ORPHA:2512
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Tubulointerstitial...	ORPHA:85450
Granulomatous Slack Skin	Acute kidney injury, Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia	ORPHA:33111
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Macular dystrophy, Progressive psychomotor deterioration, Abnormal retinal morph...	ORPHA:251004
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hepatomegaly, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated...	OMIM:615559
Denys-Drash Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male...	OMIM:194080
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome...	ORPHA:85445
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Fasting hypoglycemia, Hyperu...	OMIM:232200
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circul...	ORPHA:54251
Hydrolethalus	Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia, Agenesis of corpus callosum, Absent se...	ORPHA:2189
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Bence Jones Proteinuria, Lymphadenopathy, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
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
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, D...	ORPHA:168569
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Polymicrogyria, Abnormal cortical gyration, Neonatal death	OMIM:619602
Lissencephaly 6 With Microcephaly	Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent...	OMIM:616212
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr...	ORPHA:263458
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Normochromic anemia, Acute myeloid leukemia, Ch...	ORPHA:98849
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration	OMIM:618709
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Hydroureter, Megaloblastic anemia, Abnormal autonomic nervous system physiology, S...	OMIM:598500
Lymphatic Malformation 9	Predominantly lower limb lymphedema	OMIM:619319
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Irritability, Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decr...	OMIM:300539
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ...	ORPHA:543
Nephronophthisis-Like Nephropathy 2	Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Elevated circulating creatinine co...	OMIM:619468
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Lissencephaly 7 With Cerebellar Hypoplasia	Agyria, Death in infancy, Neonatal death, Agenesis of corpus callosum, Lissencephaly	OMIM:616342
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Anemia, He...	OMIM:276700
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia	OMIM:618394
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:613101
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy...	OMIM:263200
Papillorenal Syndrome	Elevated circulating creatinine concentration, Renal malrotation, Stage 5 chronic kidney disease,...	OMIM:120330
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuric...	OMIM:174000
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pap...	OMIM:607115
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia...	OMIM:602450
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Lymphedema And Cerebral Arteriovenous Anomaly	Lymphedema	OMIM:152900
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Inferior cerebellar vermis hypoplasia, Anophthalmia, Microcephaly, Agenesis of co...	ORPHA:139471
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Abnormal renal morphology, Impaired glucose tolerance, Atretic vas def...	OMIM:137920
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Solitary Median Maxillary Central Incisor	Microcephaly, Microphthalmia, Short stature, Anophthalmia	OMIM:147250
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration...	OMIM:614723
Trisomy 13	Microphthalmia, Hydrops fetalis, Anophthalmia, Intrauterine growth retardation, Aplasia/Hypoplasi...	ORPHA:3378
Igg4-Related Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Urinary bladder inflammation, Acu...	ORPHA:449395
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612925
Immunodeficiency 27A	Anemia, Lymphadenopathy, Thrombocytosis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu...	OMIM:209950
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cognitive impairment	ORPHA:2246
Subependymal Nodular Heterotopia	Polymicrogyria, Abnormality of neuronal migration, Gray matter heterotopia, Partial agenesis of t...	ORPHA:101030
Walker-Warburg Syndrome	Microphthalmia, Abnormal cortical gyration, Macrocephaly, Lissencephaly, Anophthalmia, Dandy-Walk...	ORPHA:899
Congenital Toxoplasmosis	Hepatomegaly, Anemia, Lymphadenopathy, Cognitive impairment, Abnormality of retinal pigmentation,...	ORPHA:858
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Irritability, Depression, Macular degeneration, Vacuolated lymphocytes, Retinal de...	OMIM:256730
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy, 3-Methylglutaconic aciduria, 3-Methylglutaric aciduria, Cognitive impairment	OMIM:258501
Preeclampsia	Acute kidney injury, Abnormality of the kidney, Type I diabetes mellitus, Thrombocytopenia, Prote...	ORPHA:275555
Coenzyme Q10 Deficiency, Primary, 8	Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Renal dysplasia, E...	OMIM:616733
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Periventricular heterotopia, Simplified gyral pattern, Partial agenesis of the corpus callosum	OMIM:616171
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Anemia, Retinal dystrophy, Tubulointerstitial fibrosis, Impaired rena...	OMIM:266900
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly	ORPHA:100025
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia, Splenomegaly, Aminoaciduria	ORPHA:664
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612926
Retinitis Pigmentosa 71	Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence...	OMIM:616394
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612924
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hypoglycemic seizures, Enlarged kidney, Hepatomegaly, Anemia, Hyperuricemia...	ORPHA:79259
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Trisomy 1Q	Macrocephaly, Hydrops fetalis, Polyhydramnios, Anophthalmia, Increased nuchal translucency, Agene...	ORPHA:261344
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic atrophy, Optic disc pallor, Dementia	OMIM:182830
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Vacuolated lymphocytes, Dementia, Retinal degeneration, Psyc...	OMIM:204200
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa...	ORPHA:97290
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Iron deficiency anemia, Neutropenia i...	OMIM:603909
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, ...	OMIM:619802
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Dysgyria, Type II lissencephaly, Gray matter heterotopia	ORPHA:352682
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating C-reactive protein concentration, ...	OMIM:614034
Reni Syndrome	Hypertriglyceridemia, Lymphopenia, Hypoglycemia, Focal segmental glomerulosclerosis, Podocyte foo...	OMIM:617575
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Peripheral Cone Dystrophy	Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor	OMIM:609021
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis...	OMIM:179800
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Oligomeganephronia	Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn...	ORPHA:2260
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida	ORPHA:1104
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Stage 3 chronic kidney disease, Anemia, Papilledema, Elevated circulating creatinin...	OMIM:620366
Joubert Syndrome 30	Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:617622
Rhabdoid Tumor	Irritability, Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Hypercalcemia, Thrombocytopenia	ORPHA:69077
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Relapsing Fever	Acute kidney injury, Hematuria, Anemia, Elevated circulating C-reactive protein concentration, Le...	ORPHA:91547
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Sp...	OMIM:618534
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopath...	ORPHA:100083
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia	OMIM:306000
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Asplenia	OMIM:615415
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hepatomegaly, Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Renal insuff...	ORPHA:79312
Galactokinase Deficiency	Hepatomegaly, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper...	ORPHA:79237
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Attention def...	OMIM:620211
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentra...	OMIM:308240
Lissencephaly Syndrome, Norman-Roberts Type	Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly, Agenesis of corpu...	ORPHA:89844
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate	OMIM:242530
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Abnormal...	ORPHA:505248
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Microphthalmia, Agenesis of corpus callosum, Anophthalmia	ORPHA:77298
Microphthalmia, Syndromic 5	Short stature, Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Matthew-Wood Syndrome	Intrauterine growth retardation, Microphthalmia, Anophthalmia	ORPHA:2470
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Ketotic hypoglycemia, Ethylmalonic aciduria, Increased level of methylsuccinic aci...	ORPHA:26792
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Confusion, Reticulocytosis, Increased blood urea nitrogen, Microscopic...	OMIM:274150
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Lymphadenopathy, Elevated circulating C-reactive protein...	OMIM:619644
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia...	OMIM:267700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase...	OMIM:235400
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Irritability, Normocytic anemia, Glomerular sclerosis, Retinal neovascularization, Normochromic a...	ORPHA:247691
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia...	OMIM:249270
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ...	OMIM:615605
Sarcosinemia	Optic atrophy, Hypersarcosinemia, Hypersarcosinuria, Emotional lability	ORPHA:3129
Cockayne Syndrome Type 2	Intrauterine growth retardation, Anophthalmia, Subcortical white matter calcifications	ORPHA:90322
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Griscelli Syndrome Type 2	Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neut...	ORPHA:79477
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Leprechaunism	Clitoral hypertrophy, Enlarged kidney, Hepatomegaly, Hyperinsulinemia, Hypokalemia, Long penis, H...	ORPHA:508
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Depression, Abnormal proportion of CD8-posit...	ORPHA:101096
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma...	OMIM:150550
Hsd10 Mitochondrial Disease	Optic atrophy, Hypoglycemia, Progressive neurologic deterioration, Retinal degeneration, Elevated...	OMIM:300438
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy	OMIM:602271
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Attenuation of retinal bloo...	OMIM:614376
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Hyperuricemia, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macr...	ORPHA:79233
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Neonatal hypoglycemia, Renal cortical cysts, Vesicoureteral reflux...	OMIM:130650
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Tularemia	Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Confusion, Leukoc...	ORPHA:3392
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, B lymphocytopenia, ...	OMIM:301078
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Irritability, Decreased nerve conduction velocity, Premature pubarche, Sensory axo...	ORPHA:457205
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia	OMIM:617744
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Retinal thinning, Hyperglycemia, Optic disc pallor	OMIM:618970
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Hepatomegaly, Anemia, Renal tubular dysfunction, Hyperammonemia, Thrombocytopenia,...	ORPHA:289916
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reacti...	OMIM:613011
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Asplenia, Ureteral atresia, Splenomeg...	OMIM:208540
Glycogen Storage Disease Ixb	Hypoglycemia, Hepatomegaly, Splenomegaly, Hyperuricemia	OMIM:261750
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Reduced haptoglobin level, Hemolytic-uremic syndrome, Anemia, Schistocytosis, Lymphopenia, Leukop...	OMIM:301110
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Epididymitis	OMIM:608106
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Optic atrophy, Nephrotic syndrome, Retinal arteriolar constriction, Diffuse mesangial sclerosis, ...	OMIM:249660
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Corneal Dystrophy, Fuchs Endothelial, 2	Edema	OMIM:610158
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Irritability, Hypospadias, Hyperammonemia, Progressive neurologic deterioration, H...	OMIM:618253
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Diaphanospondylodysostosis	Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia	OMIM:608022
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenop...	ORPHA:319487
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Reticulocytosis, Thrombocytopenia, Splenomegal...	OMIM:611490
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Precocious puberty, Hyp...	OMIM:262190
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Hypokalemia, Polycystic kidney dysplasia, Recurrent urinary tract infections, Multi...	OMIM:613095
Cach Syndrome	Optic atrophy, Gonadal dysgenesis, Irritability, Nonketotic hyperglycinemia, Optic neuritis, Cogn...	ORPHA:135
Yellow Nail Syndrome	Lymphedema, Predominantly lower limb lymphedema	OMIM:153300
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab...	ORPHA:2035
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Decreased nerve conduction velocity, Emotional lability, Optic disc pallor	ORPHA:98890
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Type I diabetes mellitus, Throm...	OMIM:304790
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Coach Syndrome 2	Elevated circulating creatinine concentration, Hyperechogenic kidneys, Chorioretinal coloboma	OMIM:619111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Death in childhood, Polymicrogyria, Type II lissencephaly, Agyria, Gray matter heterotopia, Death...	OMIM:614643
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Neonatal hypoglycemia, Congenital megaureter...	ORPHA:116
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Thrombocytopenia, Splenomegaly	OMIM:615085
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Propionic Acidemia	Hyperammonemia, Hypoglycemia, Hepatomegaly, Organic aciduria	ORPHA:35
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia	OMIM:206920
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni...	OMIM:612651
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycystic kidney ...	ORPHA:731
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci...	OMIM:265300
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp...	ORPHA:439232
Hemimegalencephaly	Polymicrogyria, Gray matter heterotopia, Pachygyria	ORPHA:99802
Vacterl With Hydrocephalus	Microphthalmia, Polyhydramnios, Anophthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:3412
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cystic renal dysplasia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Optic disc pallor	OMIM:613730
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Microphthalmia, Syndromic 3	Hypoplasia of the corpus callosum, Postnatal growth retardation, Microphthalmia, Anophthalmia, Op...	OMIM:206900
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Renal tubular epithelial necrosis, Normocytic anemia, Hematuria, Elevated ci...	ORPHA:49041
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, H...	OMIM:612783
Retinitis Pigmentosa 50	Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt...	OMIM:613194
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Niemann-Pick Disease, Type A	Irritability, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Sple...	OMIM:257200
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Nephrotic syndrome, Gran...	OMIM:618935
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Ovarian cyst, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Anemia, Orthostatic hypotension, Hypoglycemia, Increased blood urea nitrogen, E...	ORPHA:230
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive prot...	ORPHA:158061
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Lissencephaly 5	Subcortical band heterotopia, Type II lissencephaly, Gray matter heterotopia	OMIM:615191
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Renal steatosis, Hepatomegaly, Fasting hypoglycemia, Impaired gluconeogenesis, Low...	OMIM:261680
Stt3B-Cdg	Optic atrophy, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis	ORPHA:370924
3-Methylglutaconic Aciduria, Type I	Optic atrophy, 3-Methylglutaconic aciduria, Urinary incontinence, Short attention span, Cognitive...	OMIM:250950
Irvan Syndrome	Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm...	ORPHA:209943
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Irritability, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Panc...	OMIM:603553
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Brain Small Vessel Disease 2	Polymicrogyria, Subcortical heterotopia	OMIM:614483
Meacham Syndrome	Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S...	OMIM:608978
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Polysplenia, Cystic renal dysplasia	OMIM:200995
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, T...	ORPHA:99812
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Mody	Abnormality of the kidney, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, H...	ORPHA:552
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Hepatomegaly, Anemia, Macrocytic anemia, Hyperammonemia, Leukopenia, Thrombocytope...	ORPHA:27
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis	OMIM:615597
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Hyp...	ORPHA:29073
Roifman Syndrome	Lymphadenopathy, Retinal dystrophy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic hypogonadism	ORPHA:353298
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells...	ORPHA:276
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Anemia, Thrombocytopenia, Hypoalbuminemia, Elevated circulating creatinine concentr...	OMIM:608104
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Cryoglobulinemia, Familial Mixed	Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c...	OMIM:123550
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Diffuse Alveolar Hemorrhage	Anemia, Hematuria, Leukocytosis, Thrombocytopenia, Proteinuria, Elevated circulating creatinine c...	ORPHA:90060
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Leukocytosis, Poikilocytosis...	ORPHA:824
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Orthostatic Hypotension 2	Orthostatic hypotension, Hypoglycemia, Anemia, Decreased glomerular filtration rate	OMIM:618182
Retinitis Pigmentosa 38	Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa...	ORPHA:232
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Macrocephaly, Rhizomelia, Anophthalmia	OMIM:615877
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal...	OMIM:616959
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hepatosplenomegal...	OMIM:615122
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Optic atrophy, 3-Methylglutaconic aciduria, Hyperalaninemia, Hyperammonemia, Hypoglycemia	OMIM:614739
Cerebrooculonasal Syndrome	Hypoplasia of the corpus callosum, Postnatal growth retardation, Macrocephaly, Encephalocele, Ano...	OMIM:605627
Griscelli Syndrome	Abnormal circulating lipid concentration, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellular...	ORPHA:381
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Retinal dystrophy, Splenomegaly, Eosinophilia	OMIM:616651
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Castleman Disease	Hematuria, Mediastinal lymphadenopathy, Elevated circulating C-reactive protein concentration, Ly...	ORPHA:160
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, He...	ORPHA:98850
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Microcephaly, Severe sho...	ORPHA:2526
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Neurogenic bladder, Megaloblastic anemia, Sideroblastic anemia, Hydro...	OMIM:222300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Fetal Cytomegalovirus Syndrome	Optic atrophy, Hepatomegaly, Anemia, Chorioretinitis, Retinal hemorrhage, Thrombocytopenia, Splen...	ORPHA:294
Meckel Syndrome	Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Dandy-Walker malformation, Aplasia/Hypo...	ORPHA:564
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Hypotrigly...	OMIM:618885
Aica-Ribosiduria Due To Atic Deficiency	Optic atrophy, Clitoral hypertrophy, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside lev...	OMIM:608688
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Hepatomegaly, Anemia, Generalized lymphadenopathy, Elev...	ORPHA:829
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Hyperalaninemia, Hyperammonemia, Cardiomegaly, Hypoglycemia	OMIM:614702
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Ovarian neoplasm, Lymphadenopathy, Testicular ...	ORPHA:83469
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia, Short stature, Severe short stature, Intrauterine growth ...	OMIM:601186
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Glomerular sclerosis, Emotional lability, Increased blood urea nitrogen,...	OMIM:223900
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Boutonneuse Fever	Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy	ORPHA:83313
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Gray matter heterotopia, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lis...	OMIM:615219
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,...	OMIM:618280
Renal Tubular Acidosis, Proximal	Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis	OMIM:179830
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Middle Ear Neuroendocrine Tumor	Carcinoid tumor, Facial palsy, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm	ORPHA:100084
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy...	ORPHA:97289
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Hypokalemia, Renal phosphate wasting, Hypocalcemia, Hypouricemi...	ORPHA:411634
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Optic neuritis, Neutropenia in presen...	ORPHA:436159
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria	ORPHA:255138
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Irritability, Hypokalemia, Anuria, Leukocytosis, Unconjugated hyperbilirubin...	ORPHA:90038
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemia, Pr...	OMIM:616026
Hyper-Igd Syndrome	Lymphadenopathy, Lymphadenitis, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Alg9-Cdg	Irritability, Enlarged kidney, Hepatomegaly, Hypoplasia of the ovary, Bicornuate uterus, Abnormal...	ORPHA:79328
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Pseudopapilledema, Unilateral renal dysplasia, Aplasia of the vagina, Aplasia of the u...	OMIM:146255
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ...	ORPHA:79126
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Abnormal renal phy...	ORPHA:540
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Tooth absce...	ORPHA:2686
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Chronic neutropenia, Retinal coloboma, Transient neutropenia, Bifid ureter, Neph...	ORPHA:500095
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Mucopolysacchariduria, Spleno...	OMIM:252500
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Ogden Syndrome	Irritability, Enlarged kidney, Maternal diabetes, Iron deficiency anemia, Hyperbilirubinemia, Pol...	OMIM:300855
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Papa Syndrome	Lymphadenopathy, Type I diabetes mellitus, Proteinuria	ORPHA:69126
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Abnormality of the urinary system, Cognitive impairment, Nephrotic sy...	ORPHA:93552
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Mirage Syndrome	Hyperkalemia, Anemia, Hypospadias, Recurrent urinary tract infections, Hypergonadotropic hypogona...	OMIM:617053
Holoprosencephaly	Microphthalmia, Macrocephaly, Encephalocele, Anophthalmia, Dandy-Walker malformation, Branchial a...	ORPHA:2162
Pseudo-Torch Syndrome 2	Polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation	OMIM:617397
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Cockayne Syndrome Type 1	Postnatal growth retardation, Basal ganglia calcification, Anophthalmia	ORPHA:90321
3-Methylglutaconic Aciduria, Type V	Optic atrophy, 3-Methylglutaconic aciduria, Hypospadias, Decreased testicular size, Normochromic ...	OMIM:610198
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Hyperbilirubinemia, Confusion, Elevated circulating creatinine concentration...	ORPHA:542323
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Neutr...	ORPHA:79282
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Hypocalcemia, Recurrent urinary tract infections, Conf...	ORPHA:36234
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Chiari Malformation Type Ii	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:207950
Chediak-Higashi Syndrome	Decreased nerve conduction velocity, Neutropenia, Lymphadenopathy, Hemophagocytosis, Anemia, Hepa...	OMIM:214500
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Marburg Hemorrhagic Fever	Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Confusion, Hyperamylasemia, ...	ORPHA:99826
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Hypogonadism, Dementia, Hypogonadotropic hypo...	ORPHA:1173
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	ORPHA:85414
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c...	OMIM:248250
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Splenomegaly, Hypoglycemia	OMIM:613027
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Methylmalonic aciduria, Methylmalonic ...	OMIM:251110
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Chronic noninfectious lymphadenopa...	ORPHA:100093
Lymphangioleiomyomatosis	Optic atrophy, Retinal hamartoma, Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the ...	ORPHA:538
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
Congenital Muscular Dystrophy With Cerebellar Involvement	Polymicrogyria, Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:370959
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Death in infancy	ORPHA:1493
Opticocochleodentate Degeneration	Optic atrophy, Mental deterioration	OMIM:258700
Aicardi-Goutieres Syndrome 9	Optic atrophy, Irritability, Hepatomegaly, Anemia, Glomerular sclerosis, Renal insufficiency, Rec...	OMIM:619487
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Helsmoortel-Van Der Aa Syndrome	Irritability, Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Facial pals...	OMIM:615873
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys...	ORPHA:91500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Alpha-Mannosidosis, Adult Form	Pancytopenia, Depression, Confusion, Hepatosplenomegaly, Oligosacchariduria, Optic disc pallor	ORPHA:309288
Periventricular Nodular Heterotopia 7	Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:617201
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo...	ORPHA:47612
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters...	ORPHA:40923
Nephroblastoma	Nephroblastoma, Hematuria, Lymphadenopathy	ORPHA:654
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Abnormal optic disc morphology, Shawl scrotum, Cryptorchidism,...	OMIM:617516
Acute Promyelocytic Leukemia	Hematuria, Lymphadenopathy, Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Neonatal hypoglycemia, Enlarged kidney	OMIM:261740
Neuroblastoma	Irritability, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Lymph...	ORPHA:635
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia, Umbilical hernia	ORPHA:1101
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Memory impairment, Retinal hemorrhage, Splenome...	ORPHA:33226
Joubert Syndrome 21	Hypoplasia of the corpus callosum, Occipital encephalocele, Encephalocele, Anophthalmia, Hypoplas...	OMIM:615636
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Abnormal erythrocyte morphology, Depression, Neurogenic bladder, Elevated circulat...	ORPHA:96180
Dilated Cardiomyopathy With Ataxia	Optic atrophy, 3-Methylglutaconic aciduria, Neonatal hypoglycemia, Hypochromic microcytic anemia,...	ORPHA:66634
Cerebral Visual Impairment	Optic atrophy, Neonatal hypoglycemia, Optic nerve hypoplasia, Short attention span, Attention def...	ORPHA:447788
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neutropenia	ORPHA:293173
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Asplenia, Renal agenesis, Cardiomegaly, Horseshoe kidney, Polysplenia	OMIM:306955
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Papilledema, Polycythemia, Diabetes mellitus, Splen...	ORPHA:2905
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Ketonuria, Elevated urine acetoacetic acid level, 3-hydroxyisovaleric aciduria, Abnormal urine se...	OMIM:615751
Melkersson-Rosenthal Syndrome	Lymphadenopathy, Oligosacchariduria, Facial palsy, Abnormal autonomic nervous system physiology	ORPHA:2483
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Abnormal cortical gyration, Anophthalmia, Growth delay, Agenesis of corpus callos...	ORPHA:2538
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Stage 5 chronic kidney diseas...	OMIM:268315
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Cognitive impairment, Splen...	ORPHA:167
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Legionnaires Disease	Hematuria, Lymphadenopathy, Hyponatremia, Bone marrow hypocellularity, Proteinuria, Splenomegaly,...	ORPHA:549
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein con...	OMIM:615688
Desmosterolosis	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agenes...	ORPHA:35107
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy, Lymphocytosis, Nephrotic syndrome, Eosinophilia, Renal insufficiency, Tubulointe...	ORPHA:139402
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Iron deficiency anemia, Reduced proportion of CD4-n...	ORPHA:37042
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Lateral ventricle dilatation	OMIM:614105
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Vesicoureteral reflux, Elevated circulati...	OMIM:615895
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi...	ORPHA:340
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Polyhydramnios, Anophthalmia, Dand...	ORPHA:138
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Hypoplasia of the olfactory bulb, Anophthalmia	ORPHA:2250
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive pr...	OMIM:617099
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Mucopolysacchariduria, Abnormality of retinal pigmentation, Splenome...	ORPHA:585
Fibular Hemimelia	Anophthalmia, Spina bifida	ORPHA:93323
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology	OMIM:219750
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen	ORPHA:79456
14Q22Q23 Microdeletion Syndrome	Short stature, Optic nerve aplasia, Agenesis of corpus callosum, Anophthalmia	ORPHA:264200
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Hyperinsulinemia, Abnormal testis morphol...	ORPHA:791
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Splenomegaly, Proteinuria, Renal insuff...	ORPHA:36412
Pauci-Immune Glomerulonephritis	Acute kidney injury, Decreased glomerular filtration rate, Glomerular sclerosis, Nephrotic range ...	ORPHA:93126
Holoprosencephaly 9	Microphthalmia, Thin corpus callosum, Abnormal cortical gyration, Anophthalmia, Optic nerve hypop...	OMIM:610829
Proteus Syndrome	Retinal hamartoma, Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Retinal no...	ORPHA:744
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Irritability, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, H...	OMIM:259720
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Anemia, Pancytopenia, Cranial nerve compression, Hepatosplenomegaly, Facial paraly...	OMIM:259710
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Recurrent urinary tract infections, T lymphocytopenia, Ly...	OMIM:300755
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Abnormal optic disc morphology, Decreased testicular size,...	ORPHA:293967
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Hepatomegaly, Anemia, Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, R...	ORPHA:436271
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Hyponatremia, Renal ...	OMIM:617913
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count...	ORPHA:79124
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp...	OMIM:617591
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
American Trypanosomiasis	Lymphadenopathy, Aganglionic megacolon, Splenomegaly, Hepatomegaly	ORPHA:3386
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia, Microcephaly, Growth delay, Severe short stature, Agenesis of corpu...	ORPHA:2556
Congenital Syphilis	Optic atrophy, Anemia, Lymphadenopathy, Chorioretinitis, Nephrotic syndrome, Hepatosplenomegaly, ...	ORPHA:499009
Carnitine Palmitoyltransferase Ii Deficiency	Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum, Pachygyria	ORPHA:157
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Congenital Disorder Of Deglycosylation 2	Polymicrogyria, Gray matter heterotopia, Partial agenesis of the corpus callosum	OMIM:619775
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Thrombocytopenia, A...	ORPHA:448237
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Abnormality of the kidney, Aganglionic megacolon, Anemia, Hypoplasia of penis, Dep...	ORPHA:847
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Kaposi Sarcoma	Generalized lymphadenopathy, Abnormality of the spleen, Abnormal retinal morphology	ORPHA:33276
Tangier Disease	Hypertriglyceridemia, Anemia, Peripheral axonal neuropathy, Facial diplegia, Chronic noninfectiou...	ORPHA:31150
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Neonatal hypoglycemia, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spl...	OMIM:619418
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Hepatomegaly, Anemia, Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, R...	OMIM:220110
Brucellosis	Lung abscess, Liver abscess, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein con...	ORPHA:1304
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Azoospermia, Hypergonadotropic hypogonadism, Histiocytosis, Hepato...	OMIM:602782
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Autoimmun...	ORPHA:3261
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, 3-Methylglutaconic aciduria, Chorioretinal hyperpigmentation, Hyperalaninemia, Pro...	OMIM:618329
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Nephropathy...	ORPHA:809
Pagod Syndrome	Optic atrophy, Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermaphroditism...	ORPHA:991
Wolfram Syndrome	Optic atrophy, Anemia, Abnormality of the urinary system, Recurrent urinary tract infections, Dys...	ORPHA:3463
Peroxisome Biogenesis Disorder 13A (Zellweger)	Polymicrogyria, Neonatal death, Gray matter heterotopia	OMIM:614887
Microphthalmia, Syndromic 2	Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Dandy-Walker malformation, Micro...	OMIM:300166
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Enlarged tonsils, Thrombocytopenia, Splenomegaly, Absence of lymph node germinal ce...	OMIM:308230
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Premature pubarche, Myoglobinuria, Elevated circulating creatine kinase concentrat...	OMIM:616878
Neurocutaneous Melanocytosis	Abnormality of neuronal migration, Death in infancy	ORPHA:2481
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular heterotopia, Colpocephaly	OMIM:619833
Coccidioidomycosis	Abnormality of the female genitalia, Abnormality of the kidney, Mediastinal lymphadenopathy, Lymp...	ORPHA:228123
Kikuchi-Fujimoto Disease	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Elevated circulating C-reactive pr...	ORPHA:50918
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration	ORPHA:93274
Fraser Syndrome 1	Bilateral microphthalmos, Abnormal cortical gyration, Encephalocele, Anophthalmia, Myelomeningoce...	OMIM:219000
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Graft Versus Host Disease	Irritability, Lymphadenopathy, Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:39812
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr...	OMIM:312870
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum, Pachygyria	ORPHA:228308
Familial Mediterranean Fever	Lymphadenopathy, Depression, Leukocytosis, Nephrotic syndrome, Nephrocalcinosis, Proteinuria, Orc...	ORPHA:342
Hyperoxaluria, Primary, Type I	Optic atrophy, Hematuria, Choroidal neovascularization, Calcium oxalate nephrolithiasis, Hyperoxa...	OMIM:259900
Autosomal Dominant Hypocalcemia	Optic atrophy, Hypocalcemia, Hypercalciuria, Depression, Emotional lability, Hypermagnesiuria, Ne...	ORPHA:428
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Microcephaly, Sho...	OMIM:305600
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy	ORPHA:79140
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Hepatomegaly, Anemia, Renal tubular acidosis, Hypocalcemia, Abnormal retinal morph...	ORPHA:2785
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypokalemia, Generali...	ORPHA:3337
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Memory impairment, Depression, Type II diabetes mellitus, Dementia	OMIM:604121
6Q Terminal Deletion Syndrome	Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Colpocephaly, Periven...	ORPHA:75857
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology	ORPHA:440727
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration, Agenesis of corpus callosum	ORPHA:261236
Biotinidase Deficiency	Optic atrophy, Hepatomegaly, Organic aciduria, Hyperammonemia, Splenomegaly	OMIM:253260
Primary Hyperoxaluria	Optic atrophy, Hematuria, Aciduria, Choroidal neovascularization, Calcium oxalate nephrolithiasis...	ORPHA:416
Primary Sjögren Syndrome	Abnormality of the kidney, Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anem...	ORPHA:289390
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Azotemia, Retinal dystrophy, Hypoplasia of the ovary, Optic nerve hypoplasia, Leuk...	OMIM:619321
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo...	ORPHA:98977
Proboscis Lateralis	Microphthalmia, Macrocephaly, Anophthalmia, Optic nerve hypoplasia, Abnormal corpus callosum morp...	ORPHA:141099
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia	OMIM:187600
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:2211
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Dementia, Pancreatic endocrine tumor, Memory impairment, Pheochro...	ORPHA:99889
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Orchitis, Proteinuria,...	ORPHA:556
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Cockayne Syndrome	Urinary incontinence, Retinal atrophy, Cognitive impairment, Splenomegaly, Optic atrophy, Decreas...	ORPHA:191
Medullary Thyroid Carcinoma	Pheochromocytoma, Lymphadenopathy	ORPHA:1332
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Cockayne Syndrome Type 3	Abnormality of peripheral nerve conduction, Hepatomegaly, Hydroureter, Unilateral renal agenesis,...	ORPHA:90324
3C Syndrome	Abnormality of neuronal migration, Death in infancy	ORPHA:7
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Retin...	ORPHA:892
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613810
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Granuloma, Splenomeg...	OMIM:306400
Familial Pancreatic Carcinoma	Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Ovarian carcinoma, Diabetes mellitus	ORPHA:1333
Microphthalmia, Syndromic 6	Microphthalmia, Inferior cerebellar vermis hypoplasia, Anophthalmia, Microcephaly, Cerebral corti...	OMIM:607932
Fraser Syndrome	Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Microcephaly, Umbilical hernia	ORPHA:2052
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym...	ORPHA:83471
Sarcoidosis	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Renal insufficiency, Hyper...	ORPHA:797
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Papilledema, Proteinuria, Micropenis, Rod-cone dystrophy, Male hypogona...	OMIM:619471
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:314679
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst	OMIM:617478
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Polyhydramnios, Anophthalmia, Unil...	OMIM:214800
Cherubism	Marcus Gunn pupil, Macular scar, Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Cardiogenic Shock	Oliguria, Elevated circulating creatinine concentration, Hepatomegaly, Confusion	ORPHA:97292
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Depression, Retinopathy, Leukopenia, Proteinuria, Thrombocyto...	ORPHA:536
Branchiooculofacial Syndrome	Postnatal growth retardation, Microphthalmia, Anophthalmia, Branchial anomaly, Microcephaly, Agen...	OMIM:113620
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Glycogen Storage Disease Ic	Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemia, Hyp...	OMIM:232240
Arima Syndrome	Optic atrophy, Polyuria, Nephronophthisis, Hematuria, Anemia, Retinal dystrophy, Hepatomegaly, Tu...	OMIM:243910
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Behçet Disease	Irritability, Glomerulopathy, Lymphadenopathy, Memory impairment, Optic neuritis, Confusion, Reti...	ORPHA:117
Leptospirosis	Acute kidney injury, Hepatomegaly, Lymphadenopathy, Optic neuritis, Chorioretinitis, Macular cott...	ORPHA:509
Neuroendocrine Tumor Of The Colon	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Hepatomegaly, Chronic noninfectious lymphade...	ORPHA:100080
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:2671
Farber Disease	Anemia, Lymphadenopathy, Macular degeneration, Hepatosplenomegaly, Cherry red spot of the macula,...	ORPHA:333
Van Maldergem Syndrome 1	Gray matter heterotopia, Simplified gyral pattern, Pachygyria, Subcortical band heterotopia, Peri...	OMIM:601390
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Abnormality of infra-orbital nerve, Prostatitis, Lymphadenopathy, Elev...	ORPHA:449563
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Peroxisome Biogenesis Disorder 1B	Optic atrophy, Hepatomegaly, Hyperoxaluria, Renal cyst, Rod-cone dystrophy	OMIM:601539
Joubert Syndrome	Polymicrogyria, Abnormality of neuronal migration	ORPHA:475
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia, Colpocephaly	ORPHA:261250
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiect...	ORPHA:2136
Carney Triad	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Paraganglioma	ORPHA:139411
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy	ORPHA:343
Yellow Fever	Acute kidney injury, Hyperbilirubinemia, Anuria, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Pachygyria	ORPHA:2065
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618476
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618733
Blau Syndrome	Anemia, Lymphadenopathy, Abnormal cranial nerve morphology, Facial palsy, Abnormal optic nerve mo...	ORPHA:90340
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Neonatal death, Gray matter heterotopia, Pachygyria	OMIM:620024
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Coffin-Lowry Syndrome	Abnormality of neuronal migration, Death in early adulthood	ORPHA:192
Bohring-Opitz Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:605039
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Hematuria, Lymphadenopathy, Pancytopenia, Emotional lability, Confusion, Elevated c...	ORPHA:99827
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Idiopathic Hypereosinophilic Syndrome	Anemia, Generalized lymphadenopathy, Memory impairment, Confusion, Myeloproliferative disorder, L...	ORPHA:3260
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Cervical neoplasm, ...	ORPHA:653
Q Fever	Hepatomegaly, Hematuria, Lymphadenopathy, Anemia, Granuloma, Hepatosplenomegaly, Splenomegaly, Th...	ORPHA:781
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Hypocalcemic seizures, Anemia, Optic nerve compression, Hepatomegaly, Splenomegaly	OMIM:612301
Microphthalmia With Limb Anomalies	Short stature, Microphthalmia, True anophthalmia	ORPHA:1106
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Prostatitis, Lymphadenopathy, Eosinophilia, Renal insufficiency	ORPHA:449432
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia	ORPHA:1572
Neuroendocrine Tumor Of The Rectum	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Hepatomegaly, Chronic noninfectious lymphade...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Hepatomegaly, Chronic noninfectious lymphade...	ORPHA:100082
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis	OMIM:620233
Alkuraya-Kucinskas Syndrome	Lissencephaly, Gray matter heterotopia	OMIM:617822
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Hypospadias, Retinal dystrophy, Renal cortical cysts, Abnormal optic disc morphology, Subretinal ...	ORPHA:397715
Aicardi Syndrome	Polymicrogyria, Gray matter heterotopia, Pachygyria, Lateral ventricle dilatation, Partial agenes...	OMIM:304050
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegal...	ORPHA:32960
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration	ORPHA:2318
Dyskeratosis Congenita, X-Linked	Optic atrophy, Anemia, Hypospadias, Acute myeloid leukemia, Pancytopenia, Phimosis, Decreased tes...	OMIM:305000
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Aty...	ORPHA:100075
Retinitis Pigmentosa 74	Abnormal renal morphology, Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	OMIM:616562
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Colpocephaly, Agenesis of co...	OMIM:618820
Holoprosencephaly 14	Periventricular heterotopia, Gray matter heterotopia, Partial agenesis of the corpus callosum	OMIM:619895
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Stillbirth, Abnormal cortical gyration, Death in childhood, Polymicrogyria, Microlissencephaly, G...	OMIM:210710
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Polymicrogyria, Simplified gyral pattern, Pachygyria, Agenesis of corpus callosum, Lissencephaly,...	ORPHA:468631
Ileal Neuroendocrine Tumor	Hydronephrosis, Iron deficiency anemia, Lymphadenopathy, Small intestine carcinoid	ORPHA:100078
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Optic nerve compression, Hypocalcemia, Splenomegaly, Hypop...	ORPHA:667
Immunodeficiency 82 With Systemic Inflammation	Anemia, Anoperineal fistula, Elevated circulating C-reactive protein concentration, Lymphadenopat...	OMIM:619381
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Aicardi-Goutieres Syndrome 7	Irritability, Increased circulating ferritin concentration, Hepatomegaly, Anemia, Pancytopenia, N...	OMIM:615846
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration	ORPHA:163681
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Thanatophoric Dysplasia Type 1	Gray matter heterotopia	ORPHA:1860
Miller-Dieker Lissencephaly Syndrome	Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria	OMIM:247200
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia	OMIM:618870
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia	OMIM:620475
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Peroxisome Biogenesis Disorder 1A (Zellweger)	Polymicrogyria, Death in childhood, Gray matter heterotopia	OMIM:214100
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Ele...	OMIM:256040
Cancer-Associated Retinopathy	Optic atrophy, Granular macular appearance, Testicular neoplasm, Retinal atrophy, Optic disc pall...	ORPHA:71505
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Pelvic kidney, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology,...	ORPHA:508498
Van Maldergem Syndrome 2	Subcortical band heterotopia, Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:615546
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum	OMIM:305450
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Biliary, Renal, Neurologic, And Skeletal Syndrome	Stage 5 chronic kidney disease, Hepatomegaly, Renal insufficiency, Hyperbilirubinemia, Medullary ...	OMIM:619534
Galloway-Mowat Syndrome 1	Abnormality of neuronal migration, Pachygyria	OMIM:251300
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Enuresis, Abnormal optic disc morphology, Aplasia/hypopla...	ORPHA:96121
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive ...	OMIM:619573
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Hypercalciuria, Chorioretinitis, Optic n...	OMIM:181000
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration	ORPHA:1454
Kawasaki Disease	Irritability, Elevated circulating C-reactive protein concentration, Leukocytosis, Proteinuria, H...	ORPHA:2331
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy, Optic nerve compression, Abnormal optic nerve morphology, Thrombocytopenia, Tubu...	ORPHA:79078
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th...	ORPHA:284339
Orofaciodigital Syndrome I	Abnormal cortical gyration, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:311200
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Abnormal optic disc morphology	ORPHA:363417
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Chikungunya	Peripheral nerve compression, Neuritis, Lymphadenopathy, Depression, Cervical lymphadenopathy	ORPHA:324625
Hydrolethalus Syndrome 1	Stillbirth, Abnormal cortical gyration, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:236680
Koolen-De Vries Syndrome	Gray matter heterotopia	OMIM:610443
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration	ORPHA:2754
Acromelic Frontonasal Dysostosis	Periventricular nodular heterotopia, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:603671
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Bilateral Perisylvian Polymicrogyria	Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria, Bilateral per...	ORPHA:98889
Microphthalmia, Syndromic 1	Microcephaly, Microphthalmia, Anophthalmia, Growth delay	OMIM:309800
Pineoblastoma	Memory impairment, Retinoblastoma, Cognitive impairment, Papilledema, Progressive neurologic dete...	ORPHA:251909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:615287
Craniofacial Microsomia 1	Occipital encephalocele, Microphthalmia, Anophthalmia, Branchial anomaly, Agenesis of corpus call...	OMIM:164210
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Gray matter heterotopia	OMIM:620654
African Trypanosomiasis	Irritability, Urinary incontinence, Hepatomegaly, Lymphadenopathy, Optic neuritis, Papilledema, H...	ORPHA:3385
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:352665
Periventricular Nodular Heterotopia 9	Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:618918
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm	ORPHA:100086
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of neuronal migration	ORPHA:464311
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia	ORPHA:453499
Neuroendocrine Neoplasm Of Appendix	Intestinal carcinoid, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Hepatomegaly	ORPHA:100079
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Precocious puberty in females, Hyperlipidemia, Recurr...	ORPHA:64
Orofaciodigital Syndrome Xiv	Polymicrogyria, Periventricular heterotopia, Simplified gyral pattern, Partial agenesis of the co...	OMIM:615948
Fontaine Progeroid Syndrome	Periventricular heterotopia, Gray matter heterotopia, Neonatal death, Death in infancy	OMIM:612289
Smith-Lemli-Opitz Syndrome	Periventricular heterotopia, Colpocephaly, Partial agenesis of the corpus callosum, Death in infancy	OMIM:270400
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration	ORPHA:3186
Genitopatellar Syndrome	Agenesis of corpus callosum, Periventricular heterotopia, Colpocephaly, Pachygyria	OMIM:606170
Orofaciodigital Syndrome Type 14	Periventricular heterotopia, Partial agenesis of the corpus callosum	ORPHA:434179
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Polymicrogyria, Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilat...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Polymicrogyria, Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilat...	ORPHA:261552
Mowat-Wilson Syndrome	Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum	ORPHA:2152

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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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

MicroCT E14.5-E15.5

Gross Morphology Embryo E14.5-E15.5

X-ray

Human diseases caused by Zfp503 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data