Gene Summary

Name:
polymerase (RNA) mitochondrial (DNA directed)
Synonyms:
1110018N15Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hydrocephaly Polrmtem1(IMPC)Mbp HET Early adult 0.00
abnormal lymph node morphology Polrmtem1(IMPC)Mbp HET Early adult 0.00
enlarged lymph nodes Polrmtem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, incomplete penetrance Polrmtem1(IMPC)Mbp HOM   Early adult 0.00
abnormal brain morphology Polrmtem1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Human diseases caused by Polrmt mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Apolipoprotein A-I Deficiency
Lymphadenopathy, Splenomegaly ORPHA:425
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
T-Cell Receptor-Alpha/Beta Deficiency
Lymphadenopathy OMIM:615387
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Splenomegaly OMIM:608971
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:66661
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Lymphadenopathy, Splenomegaly OMIM:618852
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, CSF lymphocytic pleiocytosis, Splenomegaly, Hepatosplenomegaly, Hydrocephalus OMIM:610333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus, Lymphadenopathy ORPHA:858
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:614120
Candidiasis, Familial, 2
Lymphadenopathy OMIM:212050
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Fried Syndrome
Hydrocephalus ORPHA:85335
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
Pettigrew Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Immunodeficiency 64
Splenomegaly, Mediastinal lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Cervical lymphade... OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Lcat Deficiency
Lymphadenopathy, Splenomegaly ORPHA:650
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Splenomegaly, Mediastinal lymphadenopathy, H... OMIM:615559
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Splenomegaly ORPHA:163596
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Achondroplasia
Hydrocephalus OMIM:100800
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:300853
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Infantile Sialic Acid Storage Disease
Hydrocephalus, Splenomegaly OMIM:269920
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Griscelli Syndrome
Bone marrow hypocellularity, Hydrocephalus, Lymphadenopathy, Splenomegaly ORPHA:381
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Craniofacial Dyssynostosis
Hydrocephalus ORPHA:1516
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Lissencephaly 5
Hydrocephalus OMIM:615191
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus, Splenomegaly OMIM:615630
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Temple Syndrome
Hydrocephalus OMIM:616222
Central Precocious Puberty
Hydrocephalus ORPHA:759
Tularemia
Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Lymphadenopathy, Cervica... ORPHA:3392
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:615287
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:615122
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus OMIM:175700
Nephronophthisis 18
Hydrocephalus OMIM:615862
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Hydrocephalus ORPHA:93274
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Nephroblastoma
Lymphadenopathy ORPHA:654
Gracile Bone Dysplasia
Hypoplastic spleen, Hydrocephalus, Asplenia OMIM:602361
Multiple Sulfatase Deficiency
Increased CSF protein, Ventriculomegaly, Hydrocephalus, Splenomegaly OMIM:272200
Omenn Syndrome
Hypoplasia of the thymus, Lymphadenopathy, Splenomegaly OMIM:603554
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Hepatosplenomegaly, Abnormality of the lymph nodes, Lymphadenopathy ORPHA:911
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220219
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Pallister-Hall-Like Syndrome
Hydrocephalus OMIM:241800
Griscelli Syndrome Type 2
Lymphadenopathy, Splenomegaly ORPHA:79477
Coach Syndrome 2
Hydrocephalus OMIM:619111
Mental Retardation, Autosomal Dominant 36
Ventriculomegaly, Hydrocephalus OMIM:616362
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:618935
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Proteus-Like Syndrome
Thymus hyperplasia, Communicating hydrocephalus, Hydrocephalus, Splenomegaly ORPHA:2969
Temple Syndrome
Hydrocephalus ORPHA:254516
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly OMIM:619183
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Anencephaly, Meningocele, Hydrocephalus ORPHA:1908
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Hydrocephalus, Splenomegaly OMIM:614576
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:603909
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Hemangioblastoma
Hydrocephalus ORPHA:252054
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Pycnodysostosis
Hydrocephalus, Splenomegaly ORPHA:763
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Arachnoiditis
Hydrocephalus ORPHA:137817
Neonatal Lupus Erythematosus
Hydrocephalus, Splenomegaly ORPHA:398124
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ventriculomegaly, Lymphadenopathy OMIM:304790
Crouzon Disease
Hydrocephalus ORPHA:207
Whipple Disease
Mediastinal lymphadenopathy, Hydrocephalus, Splenomegaly ORPHA:3452
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation OMIM:614424
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Hydrocephalus, Anencephaly OMIM:611134
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Cyclic Neutropenia
Recurrent tonsillitis, Lymphadenopathy, Cervical lymphadenopathy ORPHA:2686
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Hydrocephalus ORPHA:1834
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Hydrocephalus OMIM:614083
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Splenomegaly OMIM:259700
Multiple Sulfatase Deficiency
Hydrocephalus, Splenomegaly ORPHA:585
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus ORPHA:370959
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Splenomegaly OMIM:259720
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus OMIM:618476
Primary Myelofibrosis
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:824
Gorlin Syndrome
Hydrocephalus ORPHA:377
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Autoimmune Lymphoproliferative Syndrome, Type V
Lymphadenopathy, Splenomegaly OMIM:616100
Hydrolethalus
Arrhinencephaly, Hydrocephalus, Anencephaly ORPHA:2189
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Hurler Syndrome
Hepatosplenomegaly, Enlarged tonsils, Hydrocephalus, Splenomegaly OMIM:607014
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation OMIM:607361
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Bresek Syndrome
Hydrocephalus ORPHA:85284
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Gaucher Disease, Type Iiic
Hydrocephalus, Splenomegaly OMIM:231005
Primary Ciliary Dyskinesia
Ventriculomegaly, Polysplenia, Asplenia, Hydrocephalus ORPHA:244
Muenke Syndrome
Hydrocephalus ORPHA:53271
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Myopathy, Centronuclear, X-Linked
Hydrocephalus OMIM:310400
Pentalogy Of Cantrell
Polysplenia, Hydrocephalus, Anencephaly ORPHA:1335
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased CSF protein, CSF pleocytosis, Lymphadenopathy, Splenomegaly OMIM:267700
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Neoplasm of the thymus ORPHA:97289
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Familial Hemophagocytic Lymphohistiocytosis
CSF pleocytosis, Lymphadenopathy, Splenomegaly ORPHA:540
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly ORPHA:169090
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
3C Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:7
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Ciliary Dyskinesia, Primary, 1
Asplenia, Communicating hydrocephalus OMIM:244400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased CSF protein, Splenomegaly, CSF pleocytosis, Hepatosplenomegaly, Lymphadenopathy OMIM:603553
Congenital Sialidosis Type 2
Hepatosplenomegaly, Hydrocephalus ORPHA:93400
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hyperglycorrhachia, Hydrocephalus ORPHA:90065
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Dextrocardia
Abnormality of the spleen, Hydrocephalus ORPHA:1666
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly OMIM:257200
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Hypersplenism, Lymphadenopathy ORPHA:98850
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly OMIM:612284
Arnold-Chiari Malformation Type Ii
Ventriculomegaly, Aqueductal stenosis, Meningocele, Myelomeningocele, Hydrocephalus ORPHA:1136
Emanuel Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:96170
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Splenomegaly OMIM:253220
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly OMIM:308230
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus ORPHA:2169
H Syndrome
Hepatosplenomegaly, Hydrocephalus, Lymphadenopathy ORPHA:168569
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Splenomegaly OMIM:309900
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Splenomegaly ORPHA:829
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Gamma-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100026
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Coccidioidomycosis
CSF lymphocytic pleiocytosis, Increased CSF protein, CSF pleocytosis, Mediastinal lymphadenopathy... ORPHA:228123
Trisomy 1Q
Ventriculomegaly, Hydrocephalus ORPHA:261344
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus OMIM:617822
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:549
Castleman Disease
Mediastinal lymphadenopathy, Generalized lymphadenopathy, Follicular hyperplasia, Lymphadenopathy ORPHA:160
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Enlarged tonsils, Lymphadenopathy OMIM:606367
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Thymoma
Neoplasm of the thymus, Lymphadenopathy ORPHA:99867
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:809
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Mirage Syndrome
Hypoplastic spleen, Hydrocephalus OMIM:617053
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Splenomegaly OMIM:253200
Rhombencephalosynapsis
Ventriculomegaly, Hydrocephalus ORPHA:59315
Lassa Fever
Lymphadenopathy ORPHA:99824
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Hydrocephalus, Lymphadenopathy ORPHA:538
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Mucopolysaccharidosis Type 1
Abnormality of the tonsils, Hydrocephalus, Splenomegaly ORPHA:579
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Peho Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2836
Desmosterolosis
Ventriculomegaly, Hydrocephalus, Splenomegaly ORPHA:35107
Walker-Warburg Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:614700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Hepatosplenomegaly, Generalized lymphadenopathy OMIM:618986
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:260920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Periodic Fever, Familial, Autosomal Dominant
Cervical lymphadenopathy OMIM:142680
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Hydrocephalus OMIM:608091
Endocrine-Cerebroosteodysplasia
Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:612651
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Plasminogen Deficiency, Type I
Hydrocephalus, Dandy-Walker malformation OMIM:217090
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus OMIM:616260
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Ventriculomegaly, Hydrocephalus ORPHA:500055
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Mevalonic Aciduria
Hepatosplenomegaly, Fluctuating splenomegaly, Lymphadenopathy OMIM:610377
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Myelomeningocele, Hydrocephalus,... ORPHA:63259
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Dilation of lateral ventricles, Splenomegaly OMIM:612301
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Splenomegaly OMIM:616084
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hydrocephalus OMIM:300514
Familial Lambdoid Synostosis
Hydrocephalus ORPHA:3267
Capillary Malformation-Arteriovenous Malformation
Abnormality of the lymphatic system, Hydrocephalus ORPHA:137667
Popov-Chang syndrome
Hydrocephalus OMIM:618428
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Joubert Syndrome With Oculorenal Defect
Hydrocephalus ORPHA:2318
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy ORPHA:514
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1812
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Hurler Syndrome
Abnormality of the tonsils, Hydrocephalus, Splenomegaly ORPHA:93473
Joubert Syndrome With Renal Defect
Hydrocephalus ORPHA:220497
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Hepatosplenomegaly, Communicating hydrocephalus ORPHA:168577
Joubert Syndrome
Hydrocephalus ORPHA:475
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Sting-Associated Vasculopathy, Infantile-Onset
Paratracheal lymphadenopathy, Follicular hyperplasia OMIM:615934
Knobloch Syndrome
Lymphangioma, Hydrocephalus ORPHA:1571
Fg Syndrome Type 1
Ventriculomegaly, Hydrocephalus ORPHA:93932
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Trisomy 17P
Hydrocephalus ORPHA:261290
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Splenomegaly OMIM:115150
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Hydrocephalus OMIM:123790
Cryptococcosis
Mediastinal lymphadenopathy, Hydrocephalus ORPHA:1546
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy ORPHA:100093
Hyperphosphatasia With Mental Retardation Syndrome 1
Hydrocephalus OMIM:239300
Stromme Syndrome
Accessory spleen, Hydrocephalus OMIM:243605
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Asymmetric ventricles OMIM:616914
Meckel Syndrome
Accessory spleen, Anencephaly, Asplenia, Lobar holoprosencephaly, Hydrocephalus, Dandy-Walker mal... ORPHA:564
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Adams-Oliver Syndrome
Hydrocephalus ORPHA:974
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Vacterl With Hydrocephalus
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Achondroplasia
Hydrocephalus ORPHA:15
Joubert Syndrome With Ocular Defect
Hydrocephalus ORPHA:220493
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Hydrocephalus, Anencephaly, Splenomegaly OMIM:269860
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Hydrocephalus OMIM:264480
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Holoprosencephaly
Holoprosencephaly, Spinal dysraphism, Abnormality of the spleen, Hydrocephalus, Dandy-Walker malf... ORPHA:2162
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Bone marrow hypocellularity, Hydrocephalus ORPHA:505248
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Chediak-Higashi Syndrome
Lymphadenopathy, Splenomegaly OMIM:214500
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Ventriculomegaly, Splenomegaly, Adenoiditis, Hydrocephalus ORPHA:581
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus OMIM:224400
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus ORPHA:1865
Apert Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:87
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Distal Tetrasomy 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:614643
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dilation of lateral ventricles, Normal pressure hydrocephalus ORPHA:300570
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Abnormality of the lymph nodes, Lymphadenopathy, Cervi... ORPHA:50918
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Subependymal nodules, Communicating hydrocephalus ORPHA:25
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Cervical lymphadenopathy OMIM:602782
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Hydrocephalus OMIM:253800
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Poems Syndrome
Lymphadenopathy ORPHA:2905
Campomelic Dysplasia
Hydrocephalus OMIM:114290
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Meckel Syndrome, Type 1
Accessory spleen, Anencephaly, Asplenia, Splenomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:249000
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Holoprosencephaly 7
Semilobar holoprosencephaly, Hydrocephalus, Alobar holoprosencephaly OMIM:610828
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Hydrocephalus OMIM:613150
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy ORPHA:100080
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly OMIM:616546
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Lymphadenopathy, Splenomegaly ORPHA:667
Apert Syndrome
Ventriculomegaly, Hydrocephalus OMIM:101200
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
7Q11.23 Microduplication Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:96121
Cherubism
Submandibular lymph node enlargement OMIM:118400
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hydrocephalus ORPHA:228308
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ventriculomegaly, Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hydrocephalus ORPHA:2072
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Splenomegaly ORPHA:1454
Tangier Disease
Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepatosplenomegaly ORPHA:31150
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400