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Gene: Polrmt MGI:1915843

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Gene Summary

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

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 System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Polrmtem1(IMPC)Mbp HET Early adult 0.00
abnormal lymph node morphology Polrmtem1(IMPC)Mbp HET Early adult 0.00
hydrocephaly 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
embryonic lethality prior to organogenesis Polrmtem1(IMPC)Mbp HOM   E9.5 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

75 Images

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Gross Morphology Embryo E9.5

Images

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

25 Images

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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.

The table below shows human diseases associated to Polrmt by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 55
Ventriculomegaly OMIM:619743

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Lymphadenopathy, Recurrent tonsillitis OMIM:618852
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Aicardi-Goutieres Syndrome 4
Hydrocephalus, CSF lymphocytic pleiocytosis, Hepatosplenomegaly, Splenomegaly, Ventriculomegaly OMIM:610333
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Lymphadenopathy ORPHA:858
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Fried Syndrome
Hydrocephalus ORPHA:85335
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly OMIM:614120
Immunodeficiency 64 With Lymphoproliferation
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade... OMIM:618534
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Splenomegaly ORPHA:163596
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Autoimmune Lymphoproliferative Syndrome, Type Iii
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Generalized lymph... OMIM:615559
Immunodeficiency 27A
Lymphadenopathy, Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly OMIM:209950
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Infantile Sialic Acid Storage Disease
Hydrocephalus, Splenomegaly OMIM:269920
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly OMIM:612840
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Griscelli Syndrome
Lymphadenopathy, Encephalocele, Hydrocephalus, Bone marrow hypocellularity, Splenomegaly ORPHA:381
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Ventricul... OMIM:616034
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Activated Pi3K-Delta Syndrome
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis ORPHA:397596
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis OMIM:307000
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly, Splenomegaly OMIM:615630
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle OMIM:220220
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation, Splenomegaly ORPHA:79332
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Gracile Bone Dysplasia
Hydrocephalus, Hypoplastic spleen, Asplenia OMIM:602361
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:615122
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Lymphadenopathy, Asplenia OMIM:614034
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration, Splenomegaly OMIM:272200
Nephroblastoma
Lymphadenopathy ORPHA:654
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida OMIM:207950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:911
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation OMIM:611134
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism ORPHA:1908
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Coach Syndrome 2
Hydrocephalus OMIM:619111
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Papa Syndrome
Lymphadenopathy ORPHA:69126
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:3226
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly OMIM:618935
Nephronophthisis 18
Hydrocephalus OMIM:615862
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:603909
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:601859
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly OMIM:175700
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Hydrocephalus, Communicating hydrocephalus ORPHA:2969
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Fanconi Anemia, Complementation Group R
Hydrocephalus, Bone marrow hypocellularity OMIM:617244
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Temple Syndrome
Hydrocephalus ORPHA:254516
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele OMIM:241800
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly, Splenomegaly OMIM:614576
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Hydranencephaly OMIM:225790
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Occipital encephalocele, Ventriculomegaly, Dilated fourth ventricle ORPHA:370959
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Hemangioblastoma
Hydrocephalus ORPHA:252054
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly OMIM:257200
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus, Hepatosplenomegaly OMIM:259710
Primary Myelofibrosis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:824
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ventriculomegaly, Lymphadenopathy OMIM:304790
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly, Polysplenia, Asplenia ORPHA:244
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Increased CSF protein concentration, CSF pleocytosis, Splenomegaly OMIM:267700
Arachnoiditis
Hydrocephalus ORPHA:137817
Neonatal Lupus Erythematosus
Hydrocephalus, Splenomegaly ORPHA:398124
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:619833
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele OMIM:614195
Crouzon Syndrome
Hydrocephalus ORPHA:207
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Temple Syndrome
Hydrocephalus OMIM:616222
Multiple Sulfatase Deficiency
Hydrocephalus, Splenomegaly ORPHA:585
Whipple Disease
Hydrocephalus, Mediastinal lymphadenopathy, Splenomegaly ORPHA:3452
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, CSF pleocytosis, Increased CSF protein concentration, Hepatosplenomegaly, Spleno... OMIM:603553
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormality of the spleen ORPHA:1834
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Immunodeficiency 97 With Autoinflammation
Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:619802
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Castleman Disease
Lymphadenopathy, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:160
Pentalogy Of Cantrell
Hydrocephalus, Encephalocele, Anencephaly, Polysplenia ORPHA:1335
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy ORPHA:98850
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Splenomegaly OMIM:259700
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy OMIM:301078
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, CSF pleocytosis, Splenomegaly ORPHA:540
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Triploidy
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:3376
Bresek Syndrome
Hydrocephalus ORPHA:85284
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Immunodeficiency 10
Lymphadenopathy, Splenomegaly OMIM:612783
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Hepatosplenomegaly, Splenomegaly OMIM:309900
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Aqueductal stenosis OMIM:304340
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:85450
Tafro Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:457077
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly ORPHA:169090
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Emanuel Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:609029
Felty Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:47612
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Gaucher Disease, Type Iiic
Hydrocephalus, Splenomegaly OMIM:231005
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation, Encephalocele, Meningocele OMIM:614424
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
Muenke Syndrome
Hydrocephalus ORPHA:53271
Congenital Sialidosis Type 2
Hydrocephalus, Hepatosplenomegaly ORPHA:93400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma... OMIM:619895
Congenital Syphilis
Hydrocephalus, CSF pleocytosis, Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Asplenia OMIM:244400
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Hydrolethalus
Hydrocephalus, Anencephaly ORPHA:2189
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Dextrocardia
Hydrocephalus, Abnormality of the spleen ORPHA:1666
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:829
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Emanuel Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:96170
Hurler Syndrome
Hydrocephalus, Enlarged tonsils, Hepatosplenomegaly, Splenomegaly OMIM:607014
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst OMIM:617866
Legionnaires Disease
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:549
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly ORPHA:77298
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
H Syndrome
Hydrocephalus, Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Coccidioidomycosis
Mediastinal lymphadenopathy, Lymphadenopathy, Hydrocephalus, CSF lymphocytic pleiocytosis, Increa... ORPHA:228123
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Desmosterolosis
Hydrocephalus, Ventriculomegaly, Splenomegaly ORPHA:35107
Mirage Syndrome
Hydrocephalus, Hypoplastic spleen OMIM:617053
Trisomy 1Q
Hydrocephalus, Ventriculomegaly ORPHA:261344
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Mucopolysaccharidosis Type 1
Hydrocephalus, Abnormality of the tonsils, Splenomegaly ORPHA:579
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Lymphangioleiomyomatosis
Hydrocephalus, Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy ORPHA:538
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly OMIM:614700
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly OMIM:308230
Mixed Connective Tissue Disease
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Lymphadenopathy, Splenomegaly ORPHA:436159
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
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele, Lymphangioma ORPHA:1571
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:618476
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Walker-Warburg Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis OMIM:618986
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Splenomegaly, Lateral ventricle dilatation OMIM:612301
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly OMIM:614969
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele, Splenomegaly ORPHA:1454
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly, Hepatosplenomegaly, Splenomegaly OMIM:259720
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Trisomy 17P
Hydrocephalus ORPHA:261290
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Ventriculomegaly, Dilated third ventricle ORPHA:500055
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:615895
Hyper-Igd Syndrome
Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:260920
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation OMIM:612863
Hurler Syndrome
Hydrocephalus, Abnormality of the tonsils, Splenomegaly ORPHA:93473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Abnormality of the lymphatic system ORPHA:137667
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly OMIM:300514
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif... ORPHA:63259
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly ORPHA:93932
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1812
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Splenomegaly OMIM:253220
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
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Lymphadenopathy, Accessory spleen, Splenomegaly, Ventriculomegaly, Polysplenia OMIM:619418
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Communicating hydrocephalus OMIM:616084
Stromme Syndrome
Hydrocephalus, Accessory spleen OMIM:243605
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele ORPHA:1865
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele ORPHA:220493
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Achondroplasia
Hydrocephalus ORPHA:15
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly, Splenomegaly OMIM:269860
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Anencephaly OMIM:612284
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Communicating hydrocephalus, Splenic cyst OMIM:618188
Dural Sinus Malformation
Hydrocephalus, Myelopathy ORPHA:97339
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Splenomegaly OMIM:115150
Crouzon Syndrome
Hydrocephalus OMIM:123500
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hydrocephalus, Splenic cyst, Dilated third ventricle, Colpocephaly, Lateral vent... OMIM:620371
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:614643
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Hepatosplenomegaly, Communicating hydrocephalus ORPHA:168577
Cryptococcosis
Hydrocephalus, Mediastinal lymphadenopathy ORPHA:1546
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry OMIM:616914
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Meckel Syndrome
Anencephaly, Encephalocele, Accessory spleen, Hydrocephalus, Dandy-Walker malformation, Asplenia,... ORPHA:564
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus OMIM:620351
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Hydrocephalus, Splenomegaly, Adenoiditis, Ventriculomegaly ORPHA:581
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele OMIM:130720
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Lymphadenopathy, Splenomegaly, Generalized lymphadenopathy, Cervi... ORPHA:50918
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Holoprosencephaly
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Abnormality of the sp... ORPHA:2162
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida OMIM:613776
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:257300
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly OMIM:612651
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Poems Syndrome
Lymphadenopathy, Splenomegaly ORPHA:2905
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Ventriculomegaly, Occipital meningocele, Anencephaly OMIM:616546
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Cervical myelopathy, Splenomegaly OMIM:253200
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:613603
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus ORPHA:25
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus, Bone marrow hypocellularity, Hepatosplenomegaly ORPHA:505248
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Accessory spleen, Hydrocephalus, Dandy-Walker malformation,... OMIM:249000
Chediak-Higashi Syndrome
Lymphadenopathy, Splenomegaly OMIM:214500
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Lateral ventricle dilatation ORPHA:300570
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Lymphadenopathy, Splenomegaly ORPHA:667
Neuroblastoma
Lymphadenopathy ORPHA:635
Histiocytosis-Lymphadenopathy Plus Syndrome
Lymphadenopathy, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:602782
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Ventricu... OMIM:236670
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida ORPHA:3412
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Desmosterolosis
Hydrocephalus, Ventriculomegaly OMIM:602398
Q Fever
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:781
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Monosomy 18Q
Hydrocephalus ORPHA:1600
Cerebrooculonasal Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:605627
Cherubism
Submandibular lymph node enlargement OMIM:118400
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Alexander Disease
Hydrocephalus, Aqueductal stenosis ORPHA:58
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Asplenia, Polysplenia OMIM:306955
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Achondroplasia
Hydrocephalus OMIM:100800
Fanconi Anemia, Complementation Group L
Hydrocephalus, Bone marrow hypocellularity OMIM:614083
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Otopalatodigital Syndrome Type 2
Hydrocephalus, Encephalocele, Myelomeningocele ORPHA:90652
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia ORPHA:2136
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Orofaciodigital Syndrome Ii
Hydrocephalus OMIM:252100
Tangier Disease
Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy ORPHA:31150
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Cousin Syndrome
Hydrocephalus, Hydranencephaly OMIM:260660
Medulloblastoma
Hydrocephalus ORPHA:616
Apert Syndrome
Hydrocephalus, Ventriculomegaly OMIM:101200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:615688
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd... OMIM:615287
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Ventriculomegaly ORPHA:2072
7Q11.23 Microduplication Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:96121
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Bone marrow hypocellularity OMIM:227646
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Aqueductal stenosis OMIM:619512
Immunodeficiency 31C
Lymphadenopathy, Splenomegaly OMIM:614162
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2166
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Marshall-Smith Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602535
Opitz-Kaveggia Syndrome
Hydrocephalus OMIM:305450
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Hajdu-Cheney Syndrome
Hydrocephalus, Splenomegaly ORPHA:955
Autoimmune Lymphoproliferative Syndrome
Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Splenomegaly... ORPHA:3261
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
22Q11.2 Deletion Syndrome
Meningocele, Hydrocephalus, Abnormality of the tonsils, Hypoplasia of the thymus, Spina bifida, S... ORPHA:567
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Raine Syndrome
Hydrocephalus OMIM:259775
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly OMIM:147791
Aymé-Gripp Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1272
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Chédiak-Higashi Syndrome
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:167
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Tetraamelia Syndrome 1
Hydrocephalus, Asplenia OMIM:273395
Gaucher Disease
Hydrocephalus, Splenic infarction, Splenic rupture, Splenomegaly, Ventriculomegaly ORPHA:355
Neurooculorenal Syndrome
Hydrocephalus, Ventriculomegaly, Aqueductal stenosis OMIM:620305
Cockayne Syndrome A
Ventriculomegaly, Normal pressure hydrocephalus, Thymic hormone decreased, Splenomegaly OMIM:216400
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta OMIM:300373
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Gorlin Syndrome
Hydrocephalus ORPHA:377
Pseudoaminopterin Syndrome
Hydrocephalus, Asplenia ORPHA:221120
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Dandy-Walker malformation, Colpocephaly, Holoprosencephaly, Splenomegaly OMIM:270400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly ORPHA:32960
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:2462
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:457284
Alpha-Mannosidosis, Infantile Form
Hepatosplenomegaly, Communicating hydrocephalus ORPHA:309282
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Colpocephaly OMIM:309801
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele OMIM:311200
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus ORPHA:95699
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Ventriculomegaly, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Spina bifida ORPHA:363958
Fraser Syndrome 1
Hydrocephalus, Myelomeningocele, Encephalocele, Abnormal thymus morphology OMIM:219000
Sarcoidosis
Increased CSF protein concentration, Abnormal lymph node morphology, Lymphadenopathy, Abnormal ce... ORPHA:797
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2322
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis OMIM:154400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Ventriculomegaly, Decreased CSF 5-methyltetrahydrofolate concentration OMIM:619475
Costello Syndrome
Hydrocephalus, Ventriculomegaly, Lymphangiectasis OMIM:218040
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Limb Body Wall Complex
Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida ORPHA:2369
Craniopharyngioma
Hydrocephalus ORPHA:54595
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Lateral ventricular asymmetry, Occipital meningocele, Ho... OMIM:610829
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Fanconi Anemia
Hydrocephalus, Ventriculomegaly, Spina bifida ORPHA:84
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus ORPHA:163979
Mucopolysaccharidosis Type 2
Enlarged tonsils, Splenomegaly, Communicating hydrocephalus ORPHA:580
Cockayne Syndrome B
Normal pressure hydrocephalus, Splenomegaly OMIM:133540
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Spina bifida OMIM:114290
Osteogenesis Imperfecta
Hydrocephalus, Ventriculomegaly, Noncommunicating hydrocephalus ORPHA:666
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Communicating hydrocephalus OMIM:617011
Full Nf2-Related Schwannomatosis
Hydrocephalus, Myelopathy ORPHA:637
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus ORPHA:261337
Wolf-Hirschhorn Syndrome
Hydrocephalus, Ventriculomegaly, Accessory spleen OMIM:194190
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Brucellosis
Lymphadenopathy, Splenomegaly, Hypersplenism ORPHA:1304
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Behçet Disease
Lymphadenopathy, Splenomegaly ORPHA:117
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:619381
Meningioma
Hydrocephalus ORPHA:2495
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the thymus OMIM:264090
Tuberous Sclerosis Complex
Subependymal nodules, Pulmonary lymphangiomyomatosis, Noncommunicating hydrocephalus ORPHA:805
Microphthalmia With Limb Anomalies
Hydrocephalus ORPHA:1106
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hydrocephalus, Colpocephaly, Lateral ventricle dilatation OMIM:210710
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus ORPHA:2556
African Trypanosomiasis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Ventriculomegaly, Myelopathy ORPHA:3385
Hydrolethalus Syndrome 1
Dandy-Walker malformation, Anencephaly, Severe hydrocephalus, Accessory spleen OMIM:236680
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:256040
Fontaine Progeroid Syndrome
Hydrocephalus OMIM:612289
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93924
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Crimean-Congo Hemorrhagic Fever
Lymphadenopathy, Splenomegaly ORPHA:99827
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Oeis Complex
Hydrocephalus, Myelomeningocele OMIM:258040
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Blau Syndrome
Lymphadenopathy, Splenomegaly ORPHA:90340
Focal Dermal Hypoplasia
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:305600
Marburg Hemorrhagic Fever
Lymphadenopathy ORPHA:99826
Acrofacial Dysostosis, Cincinnati Type
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Aqueductal stenosis OMIM:616462
Tetrasomy 9P
Hydrocephalus, Dandy-Walker malformation ORPHA:3310
Peters Plus Syndrome
Hydrocephalus, Ventriculomegaly, Spina bifida occulta ORPHA:709
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus OMIM:619321
Yunis-Varon Syndrome
Hydrocephalus ORPHA:3472
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta OMIM:218600
Fetal Akinesia Deformation Sequence 1
Hydrocephalus OMIM:208150
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Splenomegaly, Polysplenia OMIM:312870
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Aqueductal stenosis, Splenomegaly, Lateral ventricle dilatation OMIM:619534
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mild fetal ventriculomegaly, Communicating hydrocephalus OMIM:619841
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Lateral ventricle dilatation OMIM:607872
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Neoplasm of the thymus ORPHA:99889
Neurofibromatosis Type 1
Hydrocephalus ORPHA:636
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus ORPHA:3455
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Leptospirosis
Lymphadenopathy ORPHA:509
Peters-Plus Syndrome
Hydrocephalus, Ventriculomegaly OMIM:261540
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Frontal encephalocele, Accessory spleen OMIM:268300
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Spina bifida OMIM:304120
Coffin-Siris Syndrome 12
Noncommunicating hydrocephalus OMIM:619325
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly OMIM:107480
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Hydrocephalus, Occipital encephalocele OMIM:164210
Combined Oxidative Phosphorylation Deficiency 55
Ventriculomegaly OMIM:619743

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 Polrmt

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 Polrmt.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Polrmtem1(IMPC)Mbp Exon Deletion Mice, Tissue
Polrmttm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Polrmttm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Polrmttm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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