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Gene: Cep85l MGI:3642684

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Gene Summary

Name:
centrosomal protein 85-like
Synonyms:
Gm9766

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
abnormal auditory brainstem response Cep85lem1(IMPC)Mbp HOM   Early adult 2.50×10-06
decreased prepulse inhibition Cep85lem1(IMPC)Mbp HOM Early adult 0.00
decreased anxiety-related response Cep85lem1(IMPC)Mbp HOM   Early adult 2.63×10-06
abnormal lymph node morphology Cep85lem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Cep85lem1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Cep85lem1(IMPC)Mbp HOM   Early adult 4.51×10-05
abnormal startle reflex Cep85lem1(IMPC)Mbp HOM Early adult 1.24×10-06
decreased thigmotaxis Cep85lem1(IMPC)Mbp HOM   Early adult 4.74×10-06
abnormal behavior Cep85lem1(IMPC)Mbp HOM   Early adult 4.75×10-06
decreased startle reflex Cep85lem1(IMPC)Mbp HOM Early adult 7.78×10-06
enlarged kidney Cep85lem1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Cep85lem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Cep85lem1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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Human diseases caused by Cep85l 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 Cep85l by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lissencephaly 10
Torticollis, Suicidal ideation, Aggressive behavior, EEG abnormality, Depression, Bipolar affecti... OMIM:618873

The table below shows human diseases predicted to be associated to Cep85l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Ataxia, Hyperglycinuria, EEG a... OMIM:239500
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Bradykinesia, Decreased amplitude of sensory action po... OMIM:619279
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Focal EEG discharges with secondary ... ORPHA:3077
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Urinary urgency, Bradykinesia, Resting tremor, Anxiety, Depression OMIM:605909
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Hyperglycinuria, Impulsivity, Lethargy OMIM:605899
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Abnormality of the pinna, Tremor, Hyperactivity, Ataxia OMIM:300983
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Increased urinary disaccharide excretion, Hearing impairment OMIM:248510
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Steppage gait, Continuous spike and waves during slow sleep, Aggr... ORPHA:98818
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality ORPHA:436151
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Morm Syndrome
Aggressive behavior, Hyperactivity, Micropenis, Abnormality of the kidney ORPHA:75858
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Attention deficit hyperactivity diso... OMIM:301008
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... ORPHA:85445
Mohr-Tranebjaerg Syndrome
Dystonia, Optic atrophy, Abnormality of somatosensory evoked potentials, Oromandibular dystonia, ... ORPHA:52368
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Aggressive behavior, Tremor, Hyperactivity, Broad-based gait OMIM:619470
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Tremor, Ataxia, Emotio... ORPHA:206443
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Phenylketonuria
Aggressive behavior, Self-mutilation, Increased level of hippuric acid in urine, Hyperactivity, I... OMIM:261600
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... OMIM:263200
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Recurrent urinary tract infections, Splenomegaly OMIM:618495
Cln5 Disease
Dysmetria, Aggressive behavior, EEG with generalized slow activity, Tremor, Hyperactivity, Inabil... ORPHA:228360
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, EEG with focal sharp slow waves, Hyperactivity, Personality disorder,... ORPHA:2382
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Asplenia, Enlarged kidney OMIM:615415
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, H... ORPHA:88616
Kerion Celsi
Lymphadenopathy ORPHA:499
Stiff Person Spectrum Disorder
Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Anxiety, Difficulty walking ORPHA:3198
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:608971
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Prominent ear helix, Impulsivity ORPHA:100973
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... OMIM:125250
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Tremor, Hyperactivity, Inability to walk,... OMIM:618718
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Optic atrophy, Focal segmental glomerulosclerosis, Hepatomegaly, Nephrotic... OMIM:617303
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hepatomegaly, Tremor, Hyperactivity, Ataxia OMIM:615924
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Macrotia, Posteriorly rotated ears, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Elevated urinary 4-hydroxybutyric acid, Aggressive behavior, Increased l... OMIM:271980
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Granulomatous Slack Skin
Acute kidney injury, Abnormality of the lymph nodes, Nephrocalcinosis ORPHA:33111
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... ORPHA:248111
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Hepatomegaly, Ureteral duplication, Hydronephrosis, Overfolded helix, Cardiomegaly, Pos... OMIM:608836
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Exaggerated startle res... ORPHA:309246
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia OMIM:619126
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Tremor, Hyperactivity, Ataxia OMIM:612716
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Kaposiform Lymphangiomatosis
Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphatic system, Splenome... ORPHA:464329
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal oncocytoma, Renal cortical adenoma, Abnormality of the lymph nodes, Chronic noninfectious l... ORPHA:97290
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Hodgkin Lymphoma
Lymphadenopathy, Ataxia, Hepatomegaly, Splenomegaly ORPHA:98293
Rasmussen Subacute Encephalitis
Increased theta frequency activity in EEG, Hemidystonia, EEG with focal epileptiform discharges, ... ORPHA:1929
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear cartilage, Sple... ORPHA:66661
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Mu-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Nephropathy ORPHA:100024
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... OMIM:601455
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Gait disturbance, Urinary retention, Dysmetria, Orthostatic ... ORPHA:99027
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Asplenia, Polysplenia, Renal dysplasia, Polycystic kidney dysplasia, Ureteral atres... OMIM:208540
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, EEG abnormality, Broad-based gait ORPHA:411515
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... ORPHA:1942
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Mediastinal lymphadenopathy, Nephrotic syndrome, Lymphadenopathy, Membranous nephro... OMIM:615559
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior, EEG abnormality, Posteriorly rotated ears OMIM:617773
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
H Syndrome
Lymphadenopathy, Hearing impairment, Micropenis, Hepatosplenomegaly, Abnormality of the kidney, E... ORPHA:168569
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Recurrent tonsillitis, Splenomegaly OMIM:618852
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly OMIM:615895
Intellectual Developmental Disorder, X-Linked 107
Abnormality of superior crus of antihelix, Aggressive behavior, Macrotia, Hyperactivity, Prominen... OMIM:301013
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Uraciluria, Optic atrophy, Lethargy OMIM:274270
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity, Aggressive behavior OMIM:618342
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, EEG w... ORPHA:485350
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
Charcot-Marie-Tooth Disease Type 1F
Steppage gait, Hand tremor, Optic nerve hypoplasia, Absent brainstem auditory responses, Decrease... ORPHA:101085
Rhabdoid Tumor
Lymphadenopathy, Renal neoplasm, Hematuria, Irritability ORPHA:69077
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormality of the lymph n... ORPHA:319487
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Abnormality of the pinna, Polysplenia, Enlarged kidney OMIM:200995
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Heavy proteinuria, Nephrotic syndrome, Bone marrow hypocellularity, Hepatosplenome... ORPHA:505248
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, EEG abnormality, Impulsivity, Ga... ORPHA:500180
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Aggressive behavior, Cardiomegaly, Hearing impairment, Splenomegaly, Hyperactivity,... OMIM:252920
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Microtia, Nephroblastoma, Enlarged kidney ORPHA:276280
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Mood swings, Aggressive behavior, Abnormality of the pinna, Tremor, Hyperactivity, M... OMIM:300354
Endocrine-Cerebroosteodysplasia
Hypospadias, Abnormality of the pinna, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged... OMIM:612651
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney ORPHA:251004
Alg9-Cdg
Inappropriate crying, Hydronephrosis, Hepatomegaly, Abnormal renal artery morphology, Torticollis... ORPHA:79328
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Nephrocalcinosis, Glomerular sclerosis, Splenomegaly, Renal... OMIM:276700
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Posteriorly rotated ears ORPHA:251383
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Emotional lability, Irritabili... OMIM:608643
Stiff-Person Syndrome
Opisthotonus, Agoraphobia, Exaggerated startle response, Anxiety, Depression OMIM:184850
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, EEG with multifocal slow activity, Aggressive behavior, Hyperactivity, Abnormal re... OMIM:616809
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, EEG with series of focal spikes, Aggressive behavior, EEG with photoparoxysmal ... ORPHA:168491
Scrub Typhus
Lymphadenopathy, Splenomegaly, Tremor, Renal insufficiency, Lethargy ORPHA:83317
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Hepatosplenomegaly, Low-frequency sensorineural hearing impairment, Splenomegaly OMIM:613101
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Hearing impairment ORPHA:457260
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Posteriorly rotated ears OMIM:300831
Congenital Toxoplasmosis
Lymphadenopathy, Hepatomegaly, Cardiomegaly, Hearing impairment ORPHA:858
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:603552
Optic Atrophy 11
Optic atrophy, Dysmetria, Facial diplegia, Macrotia, Hearing impairment, Hyperactivity, Ataxia OMIM:617302
Alpha-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100025
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Hepatomegaly, Interictal epileptiform activity, Aggressive behavior, Self-mutilatio... ORPHA:163681
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... ORPHA:1215
Lymphoproliferative Syndrome 3
Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... OMIM:232200
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Gait disturbance, Urinary bladder sphincter dysfunction, Aggressi... ORPHA:43
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior, Macrotia OMIM:300558
Adult Krabbe Disease
Gait disturbance, Ataxia, Urinary incontinence, EEG abnormality, Broad-based gait, Prolonged brai... ORPHA:206448
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndrome, Lymphadeno... ORPHA:85450
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... OMIM:232220
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior, Proximal renal tubular acidosis OMIM:615824
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Ataxia ORPHA:391
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Immunodeficiency 64
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Cervical lymphade... OMIM:618534
Cerebrotendinous Xanthomatosis
Dystonia, Gait disturbance, Optic disc pallor, Optic atrophy, Abnormal auditory evoked potentials... ORPHA:909
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Immunodeficiency 72 With Autoinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormality of the urinary system, Self-mutilation, ... OMIM:182290
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Abnormality of peripheral nerve conduction, Optic atrophy, Hyperactiv... ORPHA:35069
Middle Ear Neuroendocrine Tumor
Facial palsy, Sensorineural hearing impairment, Chronic noninfectious lymphadenopathy, Unilateral... ORPHA:100084
Heme Oxygenase 1 Deficiency
Hepatomegaly, Asplenia, Lymphadenopathy, Hematuria, Nephritis, Cervical lymphadenopathy, Proteinuria OMIM:614034
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity, Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Glomerulonephritis, Splenomegaly OMIM:619375
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Inappropriate laughter, Tremor, Hyperactivity, Ataxia, EEG abnorm... ORPHA:98794
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Autosomal Recessive Polycystic Kidney Disease
Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary tract infections, Oliguria, Acute... ORPHA:731
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Exaggerated startle response, Ataxia, Urinar... OMIM:268800
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response OMIM:272750
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response, Ataxia, Broad-based gait, Anxiety ORPHA:438216
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly, Tremor, Recurrent urinary tract infections, Ataxia OMIM:613179
Cockayne Syndrome Type 1
Gait disturbance, Optic atrophy, Hepatomegaly, Absent brainstem auditory responses, Macrotia, Hea... ORPHA:90321
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Optic atrophy, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Emotional labi... OMIM:610217
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Sensorineural hearing impairment, Splenomegaly OMIM:611762
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior, Optic atrophy, Hearing impairment ORPHA:369939
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Candidiasis, Familial, 2
Lymphadenopathy OMIM:212050
Cockayne Syndrome A
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Thymic hormone decreased, H... OMIM:216400
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Abnormality of the pinna, Macrotia, Inappropriate laughter, Hyp... OMIM:614104
Schnitzler Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:37748
Infantile Krabbe Disease
Inappropriate crying, Optic atrophy, Opisthotonus, Decreased nerve conduction velocity, Hearing i... ORPHA:206436
Cinca Syndrome
Lymphadenopathy, Hearing impairment, Papilledema, Hepatosplenomegaly, Progressive sensorineural h... OMIM:607115
Adenylosuccinase Deficiency
Opisthotonus, Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyper... OMIM:103050
Niemann-Pick Disease, Type A
Athetosis, Hepatomegaly, Lymphadenopathy, Splenomegaly, Inability to walk, Irritability OMIM:257200
Immunodeficiency 27A
Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, Splenomegaly OMIM:209950
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Posterior helix pit... OMIM:130650
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Abnormal earlobe morphology, Otosclerosis, Congenital megaure... ORPHA:116
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Tremor, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia ORPHA:363400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Tay-Sachs Disease
Gait disturbance, Dystonia, Optic atrophy, Dysmetria, Exaggerated startle response, Laryngeal dys... ORPHA:845
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Difficulty walking, Exaggerated startle response ORPHA:320406
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Aggressive behavior, Low-set, posteriorly rotated ears, Hyperactivity, Unilateral re... ORPHA:3306
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Uplifted earlobe, Impulsivity OMIM:300143
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Cri-Du-Chat Syndrome
Hypospadias, Optic atrophy, Abnormality of the kidney, Aggressive behavior, Conspicuously happy d... OMIM:123450
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait, Hearing impairment OMIM:300958
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Lymphadenopathy, Hematuria, Splenomegaly, Sensorineural hearing impairment, Ataxia,... ORPHA:36412
Sézary Syndrome
Tremor, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3162
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Myopathy With Extrapyramidal Signs
Dystonia, Optic atrophy, Hepatomegaly, Splenomegaly, Tremor, Hyperactivity, Ataxia, Difficulty wa... OMIM:615673
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Hemolytic-uremic syndrome, Hepatosplenomegaly,... OMIM:619644
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Abnormal urinary color, Splenomegaly ORPHA:56425
Chromosome 10Q26 Deletion Syndrome
Aggressive behavior, Sensorineural hearing impairment, Hyperactivity, Micropenis, Broad-based gai... OMIM:609625
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Ataxia, Hypoplasia of penis ORPHA:228402
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:607594
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia ORPHA:3240
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hearing impairment, Splenomegaly, Hyperactivity, Heparan sulfate excretion in urine OMIM:252900
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Macrotia, Bifid ureter, Sensorineural hearing impairment, Multicystic kidney d... ORPHA:500095
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Aregenerative Anemia
Lymphadenopathy, Bone marrow hypocellularity, Emotional lability, Fatigable weakness of skeletal ... ORPHA:101096
Indolent Systemic Mastocytosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98848
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Cinca Syndrome
Hepatomegaly, Lymphadenopathy, Hearing impairment, Sensorineural hearing impairment, Splenomegaly... ORPHA:1451
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Nephrocalcinosis, Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Neph... ORPHA:79259
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:609981
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment OMIM:600430
Cockayne Syndrome B
Optic atrophy, Hepatomegaly, Abnormal auditory evoked potentials, Abnormality of the pinna, Decre... OMIM:133540
Meacham Syndrome
Horseshoe kidney, Accessory spleen, Enlarged kidney OMIM:608978
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Macrotia, Hyperactivity, Irritability, Anxiety, Att... ORPHA:449291
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Micropenis, Macrotia OMIM:618504
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Sensorineural hearing i... ORPHA:3226
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Angelman Syndrome
Paroxysmal bursts of laughter, Limb tremor, Progressive gait ataxia, Hyperactivity, EEG abnormali... OMIM:105830
Tularemia
Lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervica... ORPHA:3392
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Nephritis, Splenomegaly, Chronic noninfectious... OMIM:603909
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Facial palsy, Lymphadenopathy, Abnormal autonomic nervous system physiology ORPHA:2483
Nephroblastoma
Lymphadenopathy, Hematuria, Nephroblastoma ORPHA:654
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the kidney, Abnormality of the lymph nodes ORPHA:54251
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Depression, Bipolar aff... OMIM:601853
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Macrotia, Hyperactivity, Micropenis, Low frustration tolerance, Gait ataxia, Mic... OMIM:300486
Angelman Syndrome
Optic atrophy, Optic disc pallor, Happy demeanor, Self-injurious behavior, Aggressive behavior, I... ORPHA:72
Mogs-Cdg
Dystonia, Optic atrophy, Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensori... ORPHA:79330
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:615122
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Roifman Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616651
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Combined Immunodeficiency Due To Zap70 Deficiency
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abnormality of the lymph nodes, Hepatosplenom... ORPHA:911
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, EEG abnormality OMIM:610042
Pediatric-Onset Graves Disease
Mood swings, Hepatomegaly, Splenomegaly, Tremor, Hyperactivity, Irritability ORPHA:525731
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Splenomegaly, Irritability, Anxiety, Hai... ORPHA:2388
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:614470
Chediak-Higashi Syndrome
Gait disturbance, Hepatomegaly, Lymphadenopathy, Decreased nerve conduction velocity, Splenomegal... OMIM:214500
Griscelli Syndrome
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Ataxia ORPHA:381
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hypospadias, Optic nerve hypoplasia, Self-mutilation, Inappropriate laughter, Hyperactivity, Low ... ORPHA:363686
X-Linked Intellectual Disability, Cabezas Type
Abnormal earlobe morphology, Aggressive behavior, Tremor, Hyperactivity, EEG abnormality, Broad-b... ORPHA:85293
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Macrotia ORPHA:391307
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Boutonneuse Fever
Lymphadenopathy, Renal insufficiency, Cervical lymphadenopathy ORPHA:83313
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Aganglionic megacolon, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Anxiety OMIM:618430
Legionnaires Disease
Lymphadenopathy, Hematuria, Bone marrow hypocellularity, Splenomegaly, Ataxia, Proteinuria, Renal... ORPHA:549
Leprechaunism
Hepatomegaly, Protruding ear, Long penis, Nephrocalcinosis, Enlarged ovaries, Hypercalciuria, Enl... ORPHA:508
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Recurrent t... OMIM:618935
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:308240
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hearing impairment, Splenomegaly, Hyperactivity, Heparan sulfate excretion in urine OMIM:252930
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Lymph node hypoplasia ORPHA:276
16P12.1P12.3 Triplication Syndrome
Large earlobe, Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Na... ORPHA:485405
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Macrotia, Hearing impairment, Multifocal epileptiform discharges, Hyperactiv... ORPHA:369891
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Early Infantile Epileptic Encephalopathy
Dystonia, Self-injurious behavior, Renal dysplasia, Hypsarrhythmia, Tremor, Hyperactivity, Microp... ORPHA:1934
Leishmaniasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:507
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Omenn Syndrome
Lymphadenopathy, Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:603554
Griscelli Syndrome Type 2
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79477
Citrullinemia Type Ii
Hepatomegaly, Aggressive behavior, Tremor, Hyperactivity, Irritability, Enuresis, Lethargy ORPHA:247585
Spastic Paraplegia 29, Autosomal Dominant
Urinary urgency, Urinary hesitancy, Sensorineural hearing impairment, Hyperactivity, Urinary inco... OMIM:609727
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Aganglionic megacolon, Splenomegaly ORPHA:3386
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Asparagine Synthetase Deficiency
Hypsarrhythmia, Macrotia, Exaggerated startle response OMIM:615574
Mevalonic Aciduria
Fluctuating splenomegaly, Optic disc pallor, Lymphadenopathy, Posteriorly rotated ears, Fluctuati... OMIM:610377
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Posterior helix pit, Re... OMIM:312870
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Lymphadenopathy, Splenomegaly, Ataxia, Irritability OMIM:267700
Intellectual Disability-Strabismus Syndrome
Hypospadias, Gait disturbance, Aggressive behavior, Macrotia, Hearing impairment, Hyperactivity, ... ORPHA:363528
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Hearing impairment, Splenomegaly, Hyperactivity, Heparan sulfate excretion in urine OMIM:252940
Tuberous Sclerosis Complex
Self-injurious behavior, Renal cell carcinoma, Aggressive behavior, Renal cyst, Stage 5 chronic k... ORPHA:805
Gm1 Gangliosidosis Type 1
Macrotia, Exaggerated startle response, Hearing impairment, Hepatosplenomegaly, Urinary glycosami... ORPHA:79255
Potocki-Lupski Syndrome
Hyperactivity, EEG abnormality, Abnormal renal morphology, Hearing impairment OMIM:610883
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Hyperactivity, Protruding ear, Fatigable weakness o... ORPHA:166108
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... ORPHA:171929
Omenn Syndrome
Lymphadenopathy, Hepatomegaly, Nephrotic syndrome, Splenomegaly ORPHA:39041
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Castleman Disease
Ureteral obstruction, Mediastinal lymphadenopathy, Lymphadenopathy, Hematuria, Generalized lympha... ORPHA:160
Mucopolysaccharidosis Type 3
Splenomegaly, Hearing impairment, Hypersexuality, Gait disturbance, Mucopolysacchariduria, Conduc... ORPHA:581
47,Xyy Syndrome
Hypospadias, Hyperactivity, Micropenis, Impulsivity, Attention deficit hyperactivity disorder ORPHA:8
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Lymphadenopathy, Splenomegaly, Ataxia, Hepatosplenomegaly, Irritability OMIM:603553
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation, Hearing impairment ORPHA:412035
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dystonia, Optic atrophy, Bradykinesia, Blepharospasm, Tremor, Hyperactivity, Ur... OMIM:234200
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hyperactivity, Hypsarrhythmia OMIM:619239
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:83469
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Lymphadenopathy, Abnormality of the urinary system, Hematuria, Nephritis, Dar... ORPHA:93552
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neop... ORPHA:97289
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Hydronephrosis, Conductive hearing impairment, Thyroid lymphangiectasia, Intest... OMIM:235510
Waldenström Macroglobulinemia
Hepatomegaly, Lymphadenopathy, Hearing impairment, Splenomegaly, Ataxia, Multifocal epileptiform ... ORPHA:33226
Agammaglobulinemia, X-Linked
Hearing impairment, Recurrent urinary tract infections, Lymph node hypoplasia OMIM:300755
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Aggressive behavior, Shuffling gait, Macrotia, Hyperactivity, Micropenis, Low frustration toleran... OMIM:300534
Intellectual Developmental Disorder, X-Linked 98
Steroid-dependent nephrotic syndrome, Self-biting, Aggressive behavior, Macrotia, Hypsarrhythmia,... OMIM:300912
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability, Postural hypotension with compensatory tachyc... OMIM:256800
19P13.3 Microduplication Syndrome
Self-injurious behavior, Posteriorly rotated ears, Hyperactivity, Irritability, Microtia ORPHA:447980
Primary Myelofibrosis
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly ORPHA:824
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Bil... ORPHA:73272
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Ataxia, Hepatomegaly ORPHA:343
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Hyperlysinemia
Opisthotonus, Argininuria, Dysmetria, Cystinuria, Tremor, Hyperactivity, Hypoplasia of the antihe... ORPHA:2203
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Lymphadenopathy, Abnormal renal physiology, Splenomegaly, Sensorineural hearing imp... ORPHA:540
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Low-set, posteriorly rotated ears, Hypsarrhythmia, Exaggerated startle r... ORPHA:521426
Felty Syndrome
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Recurrent urinary tract... ORPHA:47612
Mend Syndrome
Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials ORPHA:401973
Lymphatic Filariasis
Lymphangiectasis, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Hematuria, Urethral obstruc... ORPHA:2035
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616100
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Hyperactivity, Emotional lability, Abnormally folded helix, Low frustration ... OMIM:309520
19P13.12 Microdeletion Syndrome
Hypospadias, Conductive hearing impairment, Self-injurious behavior, Sensorineural hearing impair... ORPHA:254346
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen, Hepatomegaly ORPHA:79456
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Oliguria, Progressive hearing impairment ORPHA:514
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Nephropathy ORPHA:809
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Lig4 Syndrome
Lymphadenopathy, Hepatomegaly, Hypoplasia of penis ORPHA:99812
7Q11.23 Microduplication Syndrome
Hypospadias, Large earlobe, Hydronephrosis, Abnormal earlobe morphology, Self-injurious behavior,... ORPHA:96121
Hyper-Igd Syndrome
Optic disc pallor, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Renal angiom... OMIM:260920
Joubert Syndrome 1
Optic disc pallor, Aggressive behavior, Self-mutilation, Renal cyst, Optic disc coloboma, Hyperac... OMIM:213300
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Aggressive Systemic Mastocytosis
Lymphadenopathy, Hepatosplenomegaly, Hypersplenism ORPHA:98850
Cyclic Neutropenia
Lymphadenopathy, Cervical lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:169090
Stankiewicz-Isidor Syndrome
Hypospadias, Ureteral duplication, Abnormality of the optic disc, Hearing impairment, Hyperactivi... OMIM:617516
Lymphoproliferative Syndrome 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:613011
Brain-Lung-Thyroid Syndrome
Hypospadias, Dystonia, Megacystis, Falls, Intention tremor, Sensorineural hearing impairment, Hyp... ORPHA:209905
Argininemia
Hepatomegaly, Oroticaciduria, Spastic gait, Diaminoaciduria, Hyperactivity, Irritability OMIM:207800
Cherubism
Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement OMIM:118400
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Tubulointerstitial nephritis, Lymphadenopathy, Nephrotic syndrome ORPHA:139402
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Aggressive behavior, Posteriorly rotated ears, Hearing impairment, Left ventricular ... OMIM:619148
Macrophage Activation Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:158061
Lymphangioleiomyomatosis
Optic atrophy, Lymphadenopathy, Hematuria, Abnormality of the lymphatic system, Pulmonary lymphan... ORPHA:538
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly OMIM:308230
Klatskin Tumor
Lymphadenopathy, Hepatomegaly ORPHA:99978
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
African Trypanosomiasis
Gait disturbance, Hepatomegaly, Lymphadenopathy, Aggressive behavior, Apathy, Splenomegaly, Tremo... ORPHA:3385
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy, Glomerulonephritis OMIM:304790
Chédiak-Higashi Syndrome
Gait disturbance, Lymphadenopathy, Decreased nerve conduction velocity, Splenomegaly, Tremor, Ata... ORPHA:167
Koolen-De Vries Syndrome
Hydronephrosis, Overfolded helix, Conspicuously happy disposition, Macrotia, Recurrent urinary tr... OMIM:610443
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Cardiomegaly, Splenomegaly, Hearing impairment, Sensorineural hear... OMIM:602782
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
White-Sutton Syndrome
Optic atrophy, Self-injurious behavior, Aggressive behavior, Duplicated collecting system, Poster... ORPHA:468678
Legius Syndrome
Dystonia, Male urethral meatus stenosis, Vestibular Schwannoma, Nephrolithiasis, Hearing impairme... ORPHA:137605
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly, Irritability ORPHA:39812
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Gait disturbance, Hydronephrosis, Optic disc pallor, Pelvic kidney, Renal cyst, Macr... ORPHA:464306
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypospadias, Torticollis, Isometric tremor, Hearing impairment, Micropenis, Irritability, Anxiety... OMIM:619475
Gamma-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100026
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Hydronephrosis, Renal agenesis, Chordee, Pelvic kidney, Small earlobe, Exaggerated s... OMIM:619522
Lissencephaly 10
Torticollis, Suicidal ideation, Aggressive behavior, EEG abnormality, Depression, Bipolar affecti... OMIM:618873
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatosplenomegaly, Enlarged tonsils OMIM:606367
Distal Trisomy 17Q
Low-set, posteriorly rotated ears, Renal duplication, Hyperactivity, Accessory spleen, Bilateral ... ORPHA:3379
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly OMIM:614700
Multiple Myeloma
Nephrotic syndrome, Lymphadenopathy, Splenomegaly, Acute kidney injury, Nephropathy, Abnormality ... ORPHA:29073
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Hyperactivity, Decreased urinary urate, Ataxia ORPHA:760
Multiple Endocrine Neoplasia Type 2
Ganglioneuromatosis, Aganglionic megacolon, Elevated urinary epinephrine, Elevated urinary vanill... ORPHA:653
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, Urinary retention ORPHA:79124
Riddle Syndrome
Gait disturbance, Enuresis nocturna, Ataxia, Generalized lymphadenopathy, Emotional lability ORPHA:420741
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Abnormal fear/anxiety-related behavior, Hydronephrosis, Conductive hearing impairmen... ORPHA:353281
Acute Promyelocytic Leukemia
Lymphadenopathy, Hematuria ORPHA:520
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Posteriorly rotated ears, Exaggerated startle response OMIM:617527
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Ataxia, ... OMIM:615688
Kikuchi-Fujimoto Disease
Hepatomegaly, Lymphadenopathy, Abnormality of the lymph nodes, Splenomegaly, Ataxia, Generalized ... ORPHA:50918
Mucopolysaccharidosis Type 2
Conductive hearing impairment, Optic atrophy, Hepatomegaly, Otosclerosis, Aggressive behavior, De... ORPHA:580
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hearing impairment, Hyperactivity, Inability to walk, Ataxia, Diffic... ORPHA:139396
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Hennekam Syndrome
Pulmonary lymphangiectasia, Horseshoe kidney, Conductive hearing impairment, Lymphadenopathy, Lym... ORPHA:2136
Poems Syndrome
Lymphadenopathy, Papilledema, Visceromegaly ORPHA:2905
Wiedemann-Steiner Syndrome
Dilatation of renal calices, Aggressive behavior, Hyperactivity, Low frustration tolerance, Anxiety ORPHA:319182
Behçet Disease
Gait disturbance, Lymphadenopathy, Splenomegaly, Ataxia, Irritability, Glomerulopathy, Renal insu... ORPHA:117
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Familial Mediterranean Fever
Nephrotic syndrome, Nephrocalcinosis, Lymphadenopathy, Splenomegaly, Nephropathy, Proteinuria ORPHA:342
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:617591
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hypsarrhythmia, Hyperactivity, Urinary incontinence, Irritability, Protruding ear ORPHA:447997
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Profound hearing impairment, Hepatomegaly, Lymphadenopathy, Splenomegaly, Accessory spleen, Bilat... OMIM:619418
Distal Monosomy 12Q
Hydronephrosis, Self-mutilation, Prominent ear helix, Bilateral conductive hearing impairment, Co... ORPHA:96149
Malakoplakia
Urinary bladder inflammation, Urinary urgency, Urinary hesitancy, Hematuria, Dysuria, Proteinuria... ORPHA:556
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Hydronephrosis, Aganglionic megacolon, Renal agenesis, Aggressive ... OMIM:270400
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Lymphadenopathy, Abnormality of the peripheral nervous system, Depr... ORPHA:289390
Q Fever
Hepatomegaly, Lymphadenopathy, Hematuria, Splenomegaly, Hepatosplenomegaly ORPHA:781
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenopathy, Hepatomegaly, Lymphadenitis, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenopathy, Hepatomegaly, Lymphadenitis, Splenomegaly OMIM:233710
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait, Protruding ear, Short ear OMIM:614756
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Lymphadenopathy, Optic nerve compression, Hearing impairment, Tremor, Splenomegaly ORPHA:667
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, Tubulointerstitial fibrosis OMIM:607944
Brucellosis
Hepatomegaly, Lymphadenopathy, Abnormality of the peripheral nervous system, Splenomegaly, Intrar... ORPHA:1304
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98849
Granulomatous Disease, Chronic, X-Linked
Lymphadenopathy, Hepatomegaly, Lymphadenitis, Splenomegaly OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenopathy, Hepatomegaly, Lymphadenitis, Splenomegaly OMIM:233690
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of peripheral nerve conduction, Orthostatic hypotension due to autonomic dysfunction,... ORPHA:642
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Self-injurious behavior, Macrotia, Posteriorly rotated ears, Sensorineural hearing... OMIM:619512
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Lymphadenopathy, Membranous nephropathy, Spleno... ORPHA:37042
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the kidne... ORPHA:228123
Cushing Syndrome Due To Ectopic Acth Secretion
Fatiguable weakness of proximal limb muscles, Increased urinary cortisol level, Neoplasm of the t... ORPHA:99889
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hypersplenism, Chronic ... ORPHA:3261
Chikungunya
Lymphadenopathy, Diminished motivation, Depression, Cervical lymphadenopathy ORPHA:324625
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Plague
Hepatomegaly, Enlarged mesenteric lymph node, Lymphadenitis, Splenomegaly, Hearing impairment, Un... ORPHA:707
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Ileal Neuroendocrine Tumor
Lymphadenopathy, Hydronephrosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy, Hydronephrosis ORPHA:100077
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Thymic Aplasia
Lymphadenopathy, Recurrent urinary tract infections, Aplasia of the thymus ORPHA:83471
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Hydronephrosis, Optic disc pallor, Exaggerated startle response, Nephrolithiasis, Inabi... ORPHA:438213
Selective Igm Deficiency
Lymphadenopathy, Recurrent urinary tract infections, Lymphadenitis ORPHA:331235
Coffin-Siris Syndrome
Hypospadias, Horseshoe kidney, Aggressive behavior, Hearing impairment, Hyperactivity ORPHA:1465
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
Tangier Disease
Orange discolored tonsils, Facial diplegia, Left ventricular hypertrophy, Hepatosplenomegaly, Chr... ORPHA:31150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hypospadias, Abnormal fear/anxiety-related behavior, Hydronephrosis, Conductive hearing impairmen... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations