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Gene: Slc17a8 MGI:3039629

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Gene Summary

Name:
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8
Synonyms:
Vgt3,  Vglut3

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
decreased startle reflex Slc17a8em1(IMPC)Mbp HOM Early adult 1.49×10-13
cataract Slc17a8em1(IMPC)Mbp HOM Early adult 3.13×10-05
enlarged uterus Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal startle reflex Slc17a8em1(IMPC)Mbp HOM Early adult 6.86×10-19
abnormal colon morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Slc17a8em1(IMPC)Mbp HOM Early adult 4.96×10-12
abnormal eye morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal adrenal gland morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Slc17a8em1(IMPC)Mbp HOM   Early adult 1.83×10-06

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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

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Slc17a8 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 Slc17a8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583

The table below shows human diseases predicted to be associated to Slc17a8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Deafness, Autosomal Recessive 119
Seizure, Sensorineural hearing impairment OMIM:619615
Worster-Drought Syndrome
Seizure, Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Deafness, Autosomal Recessive 2
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment OMIM:600060
Developmental And Epileptic Encephalopathy 81
Infantile spasms, Tonic seizure, EEG with burst suppression, Sensorineural hearing impairment, My... OMIM:618663
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Continuous Spikes And Waves During Sleep
Dystonia, Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizu... ORPHA:725
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp... ORPHA:139431
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Tonic seizure, Visually-induced ... OMIM:615369
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Paroxysmal vertigo, Typical ab... OMIM:607682
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617831
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo... OMIM:615744
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Spastic Paraparesis And Deafness
Tremor, Cataract, Hypogonadism, Hearing impairment OMIM:312910
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia, Anorexia ORPHA:99852
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Focal motor seizure, Generalized non-motor (absence) seizure, ... OMIM:617665
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Vertigo, Myoclonus, Atypical absence sei... OMIM:613855
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Multifocal epileptiform discharges, Atypical absence seizure, Myocloni... OMIM:618596
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, EEG abnormality, Seizure, Myoclonus, Atypical abse... OMIM:617391
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:254800
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Seizure, Atypical absence seizure, Generalized my... OMIM:617771
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Juvenile Myoclonic Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... ORPHA:307
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonus, Myocl... OMIM:614018
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Hyperleucine-Isoleucinemia
Seizure, Sensorineural hearing impairment OMIM:238340
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, EEG with focal sharp slow w... ORPHA:2382
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Landau-Kleffner Syndrome
Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic seizure with ge... ORPHA:98818
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Bilateral tonic-clonic seizure with generalized ... ORPHA:2590
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Sensorineural hearing impairment, Adult onset sensorineural ... ORPHA:1368
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Hypsarrhythmia, Myoclon... OMIM:616409
Hydatidiform Mole
Hyperthyroidism, Enlarged uterus ORPHA:99927
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Myoclonic absence seizure OMIM:612621
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Generaliz... ORPHA:36387
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... OMIM:619317
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atypical abs... OMIM:617113
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Tremor, Optic atrophy, Hearing impairment OMIM:165300
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Generalized non-motor (absence) seizure, M... OMIM:617810
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Inability to walk, Sensorineur... ORPHA:52368
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, EEG with burst suppression, Focal-onset seizure, M... ORPHA:3006
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy ORPHA:99976
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Myoclonic-Atonic Epilepsy
Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic ... OMIM:616421
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bilateral tonic-clonic seizure, Tremor, EEG abnormality, Dystonia, Generalized myoclonic seizure,... OMIM:617836
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:619913
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Dravet Syndrome
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... ORPHA:33069
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:79137
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, EEG with irregular generaliz... ORPHA:86909
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Multifocal e... OMIM:617711
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Papillary th... ORPHA:97290
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response, Focal impaired awareness seizure, G... ORPHA:163985
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... ORPHA:3453
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormal lymph no... ORPHA:543
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Torsion dystonia, Choreoathetosis, Seizure, Dystonia ORPHA:98811
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Prominent ear helix, Multifocal epileptiform discharges, Generalized non-motor ... ORPHA:411986
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur... ORPHA:206443
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... ORPHA:1942
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, Seizure... OMIM:271980
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, EEG with generalized epilepti... ORPHA:35878
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Generalize... OMIM:618170
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Hearing impairment ORPHA:2578
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Bifid uvula, Cleft palate OMIM:258320
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ... OMIM:219080
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... ORPHA:90791
Kerion Celsi
Lymphadenopathy ORPHA:499
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis OMIM:268650
Donnai-Barrow Syndrome
Posteriorly rotated ears, Intestinal malrotation, Proteinuria, Sensorineural hearing impairment, ... ORPHA:2143
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Intestinal malrotation, Cleft palate OMIM:615524
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone exc... ORPHA:100083
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, F... ORPHA:208447
Immunodeficiency 104
Splenomegaly, Gastroesophageal reflux, Lymphadenopathy OMIM:608971
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus, Azoospermia, B... OMIM:601076
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... OMIM:619428
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... OMIM:202010
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Cleft palate, Ur... OMIM:273395
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure... OMIM:616281
Amed Syndrome, Digenic
Hypoplasia of the uterus, Attention deficit hyperactivity disorder, Bone marrow hypocellularity, ... OMIM:619151
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Perrault Syndrome 4
Increased circulating gonadotropin level, Cleft palate, Hypoplasia of the uterus, Bicornuate uter... OMIM:615300
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia OMIM:616881
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myocloni... OMIM:620166
Prune Belly Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Intestinal malrotation, Cryptorch... ORPHA:2970
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Depression, Increased circulating cortisol level, Primary... OMIM:615830
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Seizure, Dystonia ORPHA:3240
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Nephrolithiasis, Abnormal circulating renin, Athetosis, Hyperaldosteronism, ... ORPHA:369929
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
4H Leukodystrophy
Cataract, Hypogonadotropic hypogonadism, Dystonia, Decreased response to growth hormone stimulati... ORPHA:289494
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... ORPHA:95699
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Cryptorchidism, Uterus didelphys, Intestinal dup... ORPHA:1756
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Alpha-Heavy Chain Disease
Splenomegaly, Abnormal small intestine morphology, Malabsorption, Lymphadenopathy ORPHA:100025
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Hypopl... OMIM:614841
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cataract, Vaginal neoplasm, Esophageal neoplasm, Uterine leiomyoma, Uterine le... ORPHA:523
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Horseshoe kidney, Abnormality of the uterus, Vesicoureteral reflux,... OMIM:617805
Periventricular Nodular Heterotopia 7
Optic disc pallor, Infantile spasms, Sensorineural hearing impairment, Generalized non-motor (abs... OMIM:617201
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... ORPHA:485350
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Decreased serum estradi... OMIM:618117
Late Infantile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, EEG with photoparox... ORPHA:168491
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development OMIM:618078
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Sen... OMIM:614129
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Leydig Cell Hypoplasia
Abnormal internal genitalia, Decreased serum testosterone concentration, Hypospadias, Abnormal ex... ORPHA:755
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Low-set ears, Focal impaired awareness hemiclonic seizur... OMIM:620149
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Agonadism, Cleft palate, Sex re... OMIM:154230
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... ORPHA:424019
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppres... OMIM:616973
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Overfolded helix, Posteriorly rotated ears, Generalized non-motor (absence) seizure OMIM:300801
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Abnor... ORPHA:251274
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619665
Acute Bilirubin Encephalopathy
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... OMIM:194072
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Seizure, Exaggerated startle response, Hearing impairment OMIM:620114
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism, Anal ... ORPHA:1381
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot... ORPHA:99027
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Sensorineural hearing impairment, Chronic kidney... OMIM:146255
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Nephropathy, Decre... ORPHA:85450
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... ORPHA:206448
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Abnormal intestine morphology, Intestinal l... ORPHA:397596
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Seizure, Status epilepticus, Macrotia, EEG ... OMIM:617864
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Anteverted ears, Tremor, Eating-induced seizure, Macrotia, Myoclonic a... ORPHA:544254
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Sensorineural hearing impairment, Generalized n... ORPHA:457351
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy OMIM:617772
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Low-frequency sensorineural hearing impairment, Lymphadenopathy, Hepatosplenomegaly... OMIM:613101
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Delayed puberty OMIM:300510
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Aplasia/Hypoplasia of the ... ORPHA:2470
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Maternal Uniparental Disomy Of Chromosome 6
Cleft palate, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasi... ORPHA:96181
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... ORPHA:99429
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Decreased serum estradiol, Elevated circulating follicle stimulating ho... OMIM:617690
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Gastroeso... OMIM:608800
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism, Uterus didelphys ORPHA:2491
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Donnai-Barrow Syndrome
Cataract, Posteriorly rotated ears, Intestinal malrotation, Proteinuria, Non-acidotic proximal tu... OMIM:222448
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Opti... OMIM:617281
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Cataract, Tremor, Cryptorchidism, Hydronephrosis, Hearing impairment OMIM:620327
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Atonic seizure, ... ORPHA:501
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali... ORPHA:101070
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Perrault Syndrome 6
Hypoplasia of the uterus, Sensorineural hearing impairment, Streak ovary OMIM:617565
Duplication Of Urethra
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
Cowden Syndrome 5
Colonic diverticula, Cataract, Hyperthyroidism, Hearing impairment, Goiter, Thyroiditis, Furrowed... OMIM:615108
Immunodeficiency 76
Splenomegaly, Colitis, Lymphadenopathy OMIM:619164
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistul... OMIM:617466
Lissencephaly Due To Lis1 Mutation
EEG with changes in voltage, Infantile spasms, Focal motor seizure, Opisthotonus, Hypsarrhythmia,... ORPHA:95232
Fryns Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Aganglionic megacolon, Intestina... ORPHA:2059
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased... OMIM:615954
Hyperekplexia 2
Exaggerated startle response, Astigmatism, Gastroesophageal reflux, Hiatus hernia OMIM:614619
Intellectual Developmental Disorder, X-Linked 30
Seizure, Macrotia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300558
Cowden Syndrome 6
Colonic diverticula, Cataract, Hyperthyroidism, Hearing impairment, Goiter, Thyroiditis, Furrowed... OMIM:615109
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen... ORPHA:2237
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Zellweger Syndrome
Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Malabsorption, Brushfield s... ORPHA:912
Middle Ear Neuroendocrine Tumor
Facial palsy, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Sensorineural hearing impai... ORPHA:100084
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Cataract, Hypospadias, Sclerocornea, Peters anomaly, Ovotestis, Cleft palat... OMIM:309801
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... ORPHA:83628
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Cataract, Female hypogonadism, Cholelithiasis, Decreased ... OMIM:240300
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... OMIM:300607
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Omodysplasia 2
Hypospadias, Posteriorly rotated ears, Cryptorchidism, Uterus didelphys, Cleft palate, Overfolded... OMIM:164745
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Panc... ORPHA:97289
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ovotestis, Cleft palate, Sex reversal, Low-set ears, Adrenal gland agenesis OMIM:611812
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Mast Cell Sarcoma
Splenomegaly, Hypoplasia of the ear cartilage, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Diabetes mellitus, Hypothyroidism ORPHA:3198
Galactokinase Deficiency
Psychomotor deterioration, Cataract, Hypergonadotropic hypogonadism, Sensorineural hearing impair... ORPHA:79237
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Pfapa Syndrome
Splenomegaly, Malabsorption, Lymphadenopathy ORPHA:42642
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619203
Oeis Complex
Hydroureter, Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitali... OMIM:258040
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Ovarian Fibrothecoma
Ovarian fibroma, Abnormal circulating hormone concentration, Abnormal endometrium morphology, Gon... ORPHA:314478
Congenital Toxoplasmosis
Cognitive impairment, Hearing impairment, Lymphadenopathy ORPHA:858
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Tremor, Depression, Hematochezia, Memory impairment, Hypogonadism, Type II diabetes mel... ORPHA:79095
Meckel Syndrome 12
Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of the uterus, Bifid uvu... OMIM:616258
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, S... OMIM:615559
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention ... OMIM:617914
Wolfram Syndrome 1
Neurogenic bladder, Cataract, Hydroureter, Diabetes mellitus, Diabetes insipidus, Tremor, Hypothy... OMIM:222300
Harel-Yoon Syndrome
Optic atrophy, Generalized non-motor (absence) seizure, Dystonia OMIM:617183
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, Hemat... ORPHA:1839
Mu-Heavy Chain Disease
Splenomegaly, Nephropathy, Bence Jones Proteinuria, Lymphadenopathy ORPHA:100024
Pseudomyxoma Peritonei
Inflammation of the large intestine, Intestinal obstruction, Lymphadenopathy ORPHA:26790
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... ORPHA:168558
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Precocious puberty, Optic atrophy, Dy... ORPHA:845
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo... OMIM:602450
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Mediastinal lymphadenopathy, Ileus, Ovarian neopla... ORPHA:83469
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Celiac disease, Splenomegaly, Thyroiditis, Lymphadenopathy OMIM:619375
Tularemia
Confusion, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymp... ORPHA:3392
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Abnormal pinna morphology, Bifid uterus, Cleft palate, Low-set ear... OMIM:236680
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Dystonia-Deafness Syndrome 1
Generalized dystonia, Cataract, Oculogyric crisis, Sensorineural hearing impairment, Leg dystonia... OMIM:607371
Müllerian Aplasia And Hyperandrogenism
Cleft palate, Protruding ear, Hypoplasia of the uterus, Increased serum testosterone level, Abnor... ORPHA:247768
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... OMIM:194080
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Lymphadenopathy OMIM:605258
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... OMIM:619854
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, EEG with bu... ORPHA:1934
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Congenital Tufting Enteropathy
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality... ORPHA:92050
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Gait disturbance, Difficulty walking,... ORPHA:90321
Ehlers-Danlos Syndrome, Classic-Like
Unilateral renal agenesis, Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus, Vesicou... OMIM:606408
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... OMIM:241080
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Conjunctivitis, Lymphadenopathy OMIM:240500
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Cataract, Vaginal neoplasm, Proteinuria, Hypoperistalsis, Esophageal neoplas... ORPHA:1018
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Conjunctivitis, Lymphadenopathy OMIM:603552
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia ORPHA:309246
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Posteriorly rotated ears, Unilateral renal agenesis, Elevated circulating lutei... OMIM:618419
Cowden Syndrome 1
Colonic diverticula, Cataract, Hyperthyroidism, Hearing impairment, Goiter, Thyroiditis, Furrowed... OMIM:158350
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Aganglionic megacolon, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Generali... OMIM:614207
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Mogs-Cdg
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... ORPHA:79330
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Irritability, Lymphadenopathy ORPHA:69077
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficiency, Diabetes mel... ORPHA:93111
Gillessen-Kaesbach-Nishimura Syndrome
Posteriorly rotated ears, Large fleshy ears, Bicornuate uterus, Polycystic kidney dysplasia, Low-... OMIM:263210
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Choreoathetosis, Seizure, Dystonia, Myoclonic absence seizure OMIM:616034
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacolon, Aplasia... ORPHA:3440
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Posteriorly rotated ears, Generalized clonic seizure, Tremor, Focal-o... OMIM:619229
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, EEG with f... ORPHA:98795
Cockayne Syndrome A
Renal insufficiency, Cataract, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked p... OMIM:216400
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Dystonia OMIM:618729
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal... OMIM:229850
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... OMIM:158330
Satoyoshi Syndrome
Hypoplasia of the uterus, Malabsorption OMIM:600705
Seckel Syndrome 7
Hypoplasia of the uterus, Microtia, Central hypothyroidism OMIM:614851
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectasia, Hepatosple... ORPHA:1655
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Lymphadenopathy, Anaplastic thyroid carcinoma, Dysphagia, Nodular goit... ORPHA:142
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 54
Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lymphadenopathy OMIM:609981
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Cerebrotendinous Xanthomatosis
Resting tremor, Optic disc pallor, Short attention span, Abnormal auditory evoked potentials, Opt... ORPHA:909
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Confusion, Hepatosplenome... ORPHA:309288
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Generalized dystonia, Sensorineural hearing impairment, Macroglossia, Dysphagia, Mental... ORPHA:79107
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Status epilepticus, Myoclonus OMIM:618201
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Polycystic ... OMIM:615363
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Ambiguous genitalia, male, Decreased serum estradiol, Decreased circula... ORPHA:90796
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension, Urinary incontinence, Progressive psychomo... OMIM:268800
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Lymphadenopathy, Pheochromocytoma, Elevated circulating c... ORPHA:1332
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... OMIM:119500
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Ulcerative co... OMIM:618935
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Proteinuria, Vaginal atresia, Low-set ears OMIM:191830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Hyperekplexia 3
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia OMIM:614618
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Microphthalmia, Syndromic 9
Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uter... OMIM:601186
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Pseudotrisomy 13 Syndrome
Posteriorly rotated ears, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus... OMIM:264480
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Microsporidiosis
Keratitis, Abnormality of the spleen, Lymphadenitis, Prostatitis, Urethritis, Abnormal endometriu... ORPHA:2552
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Uterine rupture,... ORPHA:649
Opitz Gbbb Syndrome
Bifid scrotum, Short attention span, Enlarged ovaries, Hypospadias, Posteriorly rotated ears, Sha... ORPHA:2745
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia, Cryptorchidism, Uterus didelphys, Prot... OMIM:618820
Hand-Foot-Genital Syndrome
Hypospadias, Abnormality of the urethra, Microtia, Bicornuate uterus, Abnormality of the uterus, ... ORPHA:2438
Hyperekplexia 1
Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures OMIM:149400
Cockayne Syndrome B
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... OMIM:133540
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus ORPHA:309155
Nephroblastoma
Aniridia, Neoplasm of the liver, Hematuria, Lymphadenopathy ORPHA:654
Stiff-Person Syndrome
Depression, Exaggerated startle response, Diabetes mellitus, Opisthotonus OMIM:184850
Niemann-Pick Disease, Type A
Splenomegaly, Athetosis, Irritability, Lymphadenopathy OMIM:257200
Nicolaides-Baraitser Syndrome
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:3051
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Absence of lymph node germinal center OMIM:608184
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy OMIM:611762
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Pleural Mesothelioma
Dysphagia, Lymphadenopathy ORPHA:50251
Currarino Syndrome
Anal stenosis, Neurogenic bladder, Urinary incontinence, Septate vagina, Perianal abscess, Gastro... OMIM:176450
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Posteriorly rotated ears, Lymphadenopathy, Hepatosplenomegaly, High palate, Low-set ears, Hypothy... OMIM:619750
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydroureter, Septate vagina, Hydronephrosis, Bicornuate uterus, Rectovaginal fistula, Labial hypo... OMIM:300707
Fish-Eye Disease
Splenomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level, Nephrocalcinosis, ... OMIM:146200
Multiple Endocrine Neoplasia Type 2
Prominent corneal nerve fibers, Elevated circulating parathyroid hormone level, Pheochromocytoma,... ORPHA:653
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Intestinal malrotation, Asplenia, Cryptorchidism, Cleft pal... ORPHA:99776
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Renal hyp... OMIM:614083
Heme Oxygenase 1 Deficiency
Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hematuria, Chemosis, Nephritis OMIM:614034
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Nephrotic syn... ORPHA:911
Lig4 Syndrome
Hypoplasia of penis, Malabsorption, Cryptorchidism, Lymphadenopathy, Type II diabetes mellitus, H... ORPHA:99812
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Functional intestina... ORPHA:1333
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Splenopancr... OMIM:269150
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Immunodeficiency 27A
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly OMIM:209950
Papa Syndrome
Type I diabetes mellitus, Proteinuria, Crohn's disease, Lymphadenopathy ORPHA:69126
Melkersson-Rosenthal Syndrome
Facial palsy, Furrowed tongue, Lymphadenopathy, Macroglossia, Oligosacchariduria, Abnormal autono... ORPHA:2483
Aregenerative Anemia
Fatigable weakness of skeletal muscles, Depression, Lymphadenopathy, Dementia, Bone marrow hypoce... ORPHA:101096
Cinca Syndrome
Papilledema, Lymphadenopathy, Hepatosplenomegaly, Progressive sensorineural hearing impairment, H... OMIM:607115
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Stromme Syndrome
Accessory spleen, Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Optic nerve hy... OMIM:243605
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Proteinuria, Unilateral renal agenesis, Maturity-onset diabetes o... OMIM:137920
Mend Syndrome
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior ORPHA:401973
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Clonic ... OMIM:615574
Roifman Syndrome
Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Fanconi Anemia
High palate, Abnormality of the uterus, Abnormality of the hypothalamus-pituitary axis, Hypospadi... ORPHA:84
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
H Syndrome
Diabetes mellitus, Malabsorption, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Corneal arcus... ORPHA:168569
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... OMIM:617600
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Cataract, Follicular thyroid carcinoma, Enlarge... ORPHA:201
46,Xx Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Aplasia/hypoplasia of the uterus, Gonadal... ORPHA:243
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Splenomegaly, Lymphocytic infiltration of the colorectal mucosa, Thyroiditis,... ORPHA:436159
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Renal... OMIM:614527
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Generalized non-motor (absenc... OMIM:615398
Griscelli Syndrome
Splenomegaly, Pyloric stenosis, Lymphadenopathy, Bone marrow hypocellularity, Iris hypopigmentation ORPHA:381
Bartsocas-Papas Syndrome 1
Anal stenosis, Absent external genitalia, Bilateral cryptorchidism, Ectopic kidney, Cupped ear, C... OMIM:263650
Agel Amyloidosis
Deficit in phonologic short-term memory, Tongue atrophy, Cataract, Proteinuria, Facial palsy, Xer... ORPHA:85448
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atres... ORPHA:59315
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, ... OMIM:270400
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Splenomegaly, Thyroiditis, Lymp... OMIM:614700
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Cataract, Adrenal hyperplasia, Optic atrophy, ... ORPHA:79500
Immunodeficiency, Common Variable, 1
Splenomegaly, Conjunctivitis, Lymphadenopathy OMIM:607594
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Generalized non-motor (absence)... ORPHA:435638
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal testis morphology, Abnormal lymph node morphology ORPHA:54251
Scrub Typhus
Tremor, Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Tonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepticus, Low-set ears... OMIM:300260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, External ear malformation, High palate, Dystonia ORPHA:438216
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, U... ORPHA:958
Sézary Syndrome
Tremor, Splenomegaly, Lymphadenopathy ORPHA:3162
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Hand-Foot-Genital Syndrome
Bifid scrotum, Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Uterus didel... OMIM:140000
Angelman Syndrome
Optic disc pallor, Infantile spasms, Tremor, Optic atrophy, EEG abnormality, Seizure, Status epil... ORPHA:72
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Cupped ear, Microcornea, Hypoplasia of the uterus, High... OMIM:110100
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Generalized non-motor (absence) seizure, Infantile spasms ORPHA:467166
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Ectopic kidney, Horseshoe kidney, Bicornuate uterus, Labial hypoplasia, Vesi... ORPHA:140952
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Hypoplasia of th... OMIM:615866
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Mic... ORPHA:3301
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Ileus, Lymphadenopathy, Type I diabetes mellitus, Hypothyroi... OMIM:304790
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... OMIM:300912
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Splenomegaly, Lymphocytic infiltration of the colorectal mucosa, Lymphadenopa... OMIM:616100
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Splenomegaly, Sensorineural hearing impairment, Ileus, Hypogonadism, Heter... ORPHA:163746
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... ORPHA:90794
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Macroglossia, Urinary glycosaminoglycan excreti... ORPHA:79255
Fraser Syndrome 1
Abnormal small intestine morphology, Corneal opacity, Hypospadias, Abnormal pinna morphology, Cry... OMIM:219000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... ORPHA:2241
American Trypanosomiasis
Splenomegaly, Achalasia, Aganglionic megacolon, Lymphadenopathy ORPHA:3386
Alg9-Cdg
Low-set, posteriorly rotated ears, Torticollis, Villous atrophy, Ureteral hypoplasia, Large flesh... ORPHA:79328
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Bifid scrotum, Anal stenosis, Renal insufficiency, Uri... ORPHA:322
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Urinary incontinence, Bi... ORPHA:2729
Townes-Brocks Syndrome 1
Bifid scrotum, Gastroesophageal reflux, Vesicoureteral reflux, Hypothyroidism, Multicystic kidney... OMIM:107480
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus ORPHA:2736
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) se... OMIM:620224
Purine Nucleoside Phosphorylase Deficiency
Tremor, Splenomegaly, Lymph node hypoplasia OMIM:613179
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Inflammation of the large intestine, Absent peripheral lymph nodes in presence o... ORPHA:98813
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splen... OMIM:603909
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Congenital hypothyroidism,... OMIM:617527
Castleman Disease
Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, R... ORPHA:160
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Seizure, Focal impaired awareness seizure OMIM:618056
Griscelli Syndrome Type 2
Splenomegaly, Iris hypopigmentation, Lymphadenopathy ORPHA:79477
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Abnormality of the lymphatic system, Optic a... ORPHA:538
Mevalonic Aciduria
Optic disc pallor, Cataract, Posteriorly rotated ears, Fluctuating splenomegaly, Lymphadenopathy,... OMIM:610377
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic syndrome, Lymphad... OMIM:619644
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, Microti... OMIM:617798
Cinca Syndrome
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, EEG abnormality, Pseudopapillede... ORPHA:1451
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Ep... ORPHA:2035
Immunodeficiency 10
Hypoplasia of the iris, Lymphadenopathy OMIM:612783
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Generalized non-motor (absence) seizure, Seizure, Status epilepticus, Hearing im... ORPHA:96147
Fg Syndrome Type 1
Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, P... ORPHA:93932
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Renal insufficiency, Malabsorption, Splenomegaly, Multifocal epilept... ORPHA:33226
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphan... OMIM:265380
Lacrimoauriculodentodigital Syndrome
Xerostomia, Vesicoureteral reflux, Conductive hearing impairment, Abnormal salivary gland morphol... ORPHA:2363
Acrorenal-Mandibular Syndrome
Absent nipple, Posteriorly rotated ears, Abnormality of the ureter, Uterus didelphys, Narrow pala... OMIM:200980
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Endometriosis, Unilateral renal agenesis, Velopharyngeal insufficiency, Horseshoe ki... ORPHA:363444
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Sensorineural hearing impairment, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cyclic Neutropenia
Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Enterocolitis, Lymphadenopathy ORPHA:2686
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Abnormal pinna morphology, Generalized non-motor (absence) seizure, Low-set ears OMIM:612337
Histiocytosis-Lymphadenopathy Plus Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Splenomega... OMIM:602782
Mednik Syndrome
Cataract, Jejunal atresia, Sensorineural hearing impairment, Volvulus, Microcolon OMIM:609313
22Q11.2 Deletion Syndrome
Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal reflux, Abnormality of the uterus, ... ORPHA:567
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of tongue, Sept... OMIM:617925
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Infantile spasms, Optic atrophy, Generalized non-motor (absence) seizure, Foca... ORPHA:404454
Cold Agglutinin Disease
Splenomegaly, Abnormal urinary color, Lymphadenopathy ORPHA:56425
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Velopharyngeal insufficiency, Endometriosis, Horseshoe kidney OMIM:613680
Carney Triad
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphade... ORPHA:139411
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Atyp... ORPHA:100093
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure, Eyelid myoclonus OMIM:613839
Malakoplakia
Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Neoplasm of... ORPHA:556
Meacham Syndrome
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic... OMIM:608978
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Mediastinal lymphadenopathy, Enterocolitis, Lymphadenopathy, Hepatosplenomegaly, Co... OMIM:619802
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Proteinuria, Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy... ORPHA:36412
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastritis, Splenomegaly, Mediastinal lymphadenopathy, Xerostomia, Ly... ORPHA:809
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Urethral atresia, High palate, Conductive hearing impairment,... ORPHA:2052
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Fused labia majora, Bifid scrotum, Decreased circulating cortisol level, Small scrotum, Anteriorl... OMIM:201750
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Cataract, Urinary incontinence, Sensorineural hearing impairment, Optic atrophy, ... ORPHA:314404
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Thymoma, Ke... OMIM:269200
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Malabsorption, Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... ORPHA:424016
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Norrie Disease
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi... OMIM:310600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Enlarged tonsils, Thyroiditis, Lymphadenopathy, Hepatosplenomegaly, Type I diabe... OMIM:606367
Omenn Syndrome
Splenomegaly, Thyroiditis, Lymphadenopathy, Nephrotic syndrome, Hypothyroidism ORPHA:39041
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... ORPHA:3109
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... OMIM:155310
Agammaglobulinemia, X-Linked
Epididymitis, Lymph node hypoplasia, Conjunctivitis, Hepatocellular carcinoma, Prostatitis, Heari... OMIM:300755
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia OMIM:617301
Lymphoproliferative Syndrome 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Gastritis, Malabsorption, Abnormality of the endocrine system, Splenomegaly, Ile... ORPHA:37042
Ulnar-Mammary Syndrome
Hypoplasia of penis, Pyloric stenosis, Cryptorchidism, Renal hypoplasia, Ectopic anus, Breast apl... ORPHA:3138
Chediak-Higashi Syndrome
Tremor, Splenomegaly, Decreased nerve conduction velocity, Ocular albinism, Lymphadenopathy, Iris... OMIM:214500
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Dark urine, Renal insufficiency, Proteinuria, Lymphade... ORPHA:93552
Boutonneuse Fever
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Leiomyomatosis, Diffuse, With Alport Syndrome
High-frequency sensorineural hearing impairment, Renal insufficiency, Cataract, Proteinuria, Sens... OMIM:308940
Peters Plus Syndrome
Ureteral duplication, Microcornea, Clitoral hypoplasia, Conductive hearing impairment, Iris colob... ORPHA:709
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure, Optic nerve hypoplasia ORPHA:363686
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Focal-onset seizure, Optic atrophy, Generalized non-motor (absenc... ORPHA:395
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Micr... OMIM:610125
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Posteriorly rotated ears, Generalized non-motor (absence) seizure, Seizure, Low-set ears, Overfol... OMIM:617360
Neuroendocrine Neoplasm Of Appendix
Functional intestinal obstruction, Chronic noninfectious lymphadenopathy, Mechanical ileus, Prima... ORPHA:100079
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Generalized non-motor (absenc... ORPHA:369837
Poems Syndrome
Papilledema, Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficienc... ORPHA:2905
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... OMIM:609441
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Pagod Syndrome
Multicystic kidney dysplasia, Abnormality of the spleen, Optic atrophy, Agonadism, Abnormality of... ORPHA:991
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Athetos... ORPHA:79351
Meckel Syndrome, Type 1
Accessory spleen, Intestinal malrotation, External genital hypoplasia, Adrenal hypoplasia, Asplen... OMIM:249000
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, Colitis, Abnormal renal physiology ORPHA:540
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Hearing impairment, Non-obstructive azoospermia, Cr... ORPHA:2232
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Cleft palate, Horseshoe kidn... ORPHA:3320
Meckel Syndrome
Accessory spleen, Low-set, posteriorly rotated ears, Ureteral duplication, Cataract, True hermaph... ORPHA:564
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Tonic seizure, Seizure, Focal emotional seizure with laughing, Aton... OMIM:618367
Legius Syndrome
Short attention span, Cataract, Dystonia, Nephrolithiasis, Desmoid tumors, Ovarian neoplasm, Vest... ORPHA:137605
Immunodeficiency 31C
Villous atrophy, Diabetes mellitus, Splenomegaly, Lymphadenopathy, Gastrointestinal eosinophilia,... OMIM:614162
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Gener... ORPHA:466943
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Cataract, Optic atrophy OMIM:253800
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, High palate, Supernumerary nipple, Bifid uterus ORPHA:1521
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Prominent antihelix, Macrotia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:615802
Cherubism
Optic neuropathy, Marcus Gunn pupil, Narrow palate, Submandibular lymph node enlargement OMIM:118400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, High palate, Small earlobe, Pelvic kidney, Hypospadias,... OMIM:619522
Pontocerebellar Hypoplasia Type 7
Fatigable weakness of skeletal muscles, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy,... ORPHA:284339
Familial Mediterranean Fever
Intestinal obstruction, Proteinuria, Malabsorption, Orchitis, Splenomegaly, Lymphadenopathy, Neph... ORPHA:342
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Lymphadenopathy ORPHA:343
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut... ORPHA:857
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Microcolon, Megacystis, Hydronephrosis OMIM:619431
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Ulnar-Mammary Syndrome
Anal stenosis, Small scrotum, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Pyloric... OMIM:181450
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Progressive hearing impairment, Oliguria, Central hypothyroidism ORPHA:514
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hematochezia, Inflammation of the large intestine, ... OMIM:615895
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Behçet Disease
Gastrointestinal hemorrhage, Renal insufficiency, Cataract, Confusion, Malabsorption, Orchitis, S... ORPHA:117
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Esophageal atresia, Cryptorchidism, Uterus... ORPHA:93271
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Phocomelia, Schinzel Type
Hypoplasia of penis, High, narrow palate, Cryptorchidism, Tracheoesophageal fistula, Cleft palate... ORPHA:2879
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Cataract, Corneal opacity, Pancreatic cysts, Cleft palate, Hepatosplenomega... OMIM:274000
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Splenomegaly, Lymphadenopathy ORPHA:169090
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Posteriorly rotated ears, Unilateral renal agenesis, Velopharyngeal insuff... OMIM:154400
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Neoplasm of the adrenal cortex, Abnormal large intestine morphology, Narrow... ORPHA:109
Sarcoidosis
Abnormality of the gastrointestinal tract, Renal insufficiency, Cataract, Hyperthyroidism, Facial... ORPHA:797
Hennekam Syndrome
Malabsorption, External ear malformation, Splenomegaly, Pyloric stenosis, Ectopic kidney, Pulmona... ORPHA:2136
Gamma-Heavy Chain Disease
Splenomegaly, Neoplasm of the tongue, Dysphagia, Lymphadenopathy ORPHA:100026
Graft Versus Host Disease
Gastrointestinal inflammation, Lymphadenopathy, Irritability, Hepatosplenomegaly, Recurrent gastr... ORPHA:39812
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:824
Legionnaires Disease
Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Bone marrow hypocellu... ORPHA:549
Limb-Mammary Syndrome
Absent nipple, Chronic irritative conjunctivitis, Cleft hard palate, Cleft palate, Protruding ear... ORPHA:69085
Renal Agenesis
Renal insufficiency, Absent vas deferens, Proteinuria, Unilateral renal agenesis, Ureteral agenes... ORPHA:411709
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Sensorineural hearing impairment, Megacystis, Pyelonephritis, Microcolon, ... OMIM:619351
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Lymphadenopa... ORPHA:100078
Primary Sjögren Syndrome
Renal insufficiency, Glomerulonephritis, Abnormality of the peripheral nervous system, Xerostomia... ORPHA:289390
Chédiak-Higashi Syndrome
Tremor, Splenomegaly, Decreased nerve conduction velocity, Lymphadenopathy, Hepatosplenomegaly, D... ORPHA:167
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Malabsorption, Hypothyroidism, Thyroiditis, Lymphadenopathy, Recurrent inf... ORPHA:83471
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia, Precocious puberty, Cryptorchidism, Ab... ORPHA:438213
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Keratitis, Orchitis,... ORPHA:449563
Coccidioidomycosis
Abnormal sperm morphology, Renal insufficiency, Abnormality of the endocrine system, Abnormality ... ORPHA:228123
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the thyroid gland, Prostatitis, Xerostomia, Enlarged lacrimal... ORPHA:449432
Wolf-Hirschhorn Syndrome
Accessory spleen, Rieger anomaly, Hypospadias, Abnormal pinna morphology, Precocious puberty, Cry... OMIM:194190
Immunodeficiency 98 With Autoinflammation, X-Linked
Type I diabetes mellitus, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Meckel Syndrome 14
Ambiguous genitalia, Low-set ears, Polycystic kidney dysplasia, Aplasia of the uterus OMIM:619879
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidis... OMIM:618280
Cornelia De Lange Syndrome
Hypoplasia of penis, Microcornea, High palate, Gastroesophageal reflux, Abnormality of the uterus... ORPHA:199
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Hypospadias, Enlarged labia minora, Posteriorly rota... OMIM:268300
Farber Disease
Corneal opacity, Lymphadenopathy, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacificat... ORPHA:333
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Thyroiditis, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic syndrome ORPHA:139402
Felty Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Irritability, Lymphadenopathy OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Irritability, Lymphadenopathy, Hepatosplenomegaly OMIM:603553
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Cataract, Hypospadias, Posteriorly rotated ears, ... OMIM:261540
Hyper-Igd Syndrome
Optic disc pallor, Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiom... OMIM:260920
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly, Urinary retention, Recurrent gastroent... ORPHA:79124
Selective Igm Deficiency
Keratitis, Lymphadenitis, Lymphadenopathy, Thyroid carcinoma, Crohn's disease, Stomach cancer, Re... ORPHA:331235
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... ORPHA:90291
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Melena, Increased serum serotonin, Atypical pulmonary carc... ORPHA:100080
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Cleft soft palate, Unilateral renal agenesis, Decreased response to g... OMIM:619503
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Coffin-Siris Syndrome 1
Hydroureter, Duodenal ulcer, Intestinal malrotation, Hypospadias, Abnormal pinna morphology, Post... OMIM:135900
Neu-Laxova Syndrome 1
Cataract, Bifid uterus, Cryptorchidism, Cleft palate, Low-set ears, Pterygium, Macrotia OMIM:256520
Igg4-Related Kidney Disease
Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Abnormal ureter morphology, Sialaden... ORPHA:449395
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Megacystis, Microcolon OMIM:619362
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Hearing impairment, Unilateral renal agenesis, Cr... ORPHA:96121
Autoimmune Lymphoproliferative Syndrome
Renal insufficiency, Gastritis, Chronic noninfectious lymphadenopathy, Glomerulonephritis, Hypers... ORPHA:3261
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Hematochezia, Melena, Atypical pulmonary carcinoid tumor, ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Hematochezia, Melena, Atypical pulmonary carcinoid tumor, ... ORPHA:100082
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy, Hematochezia, Inflammation of the large intestine, Col... OMIM:617718
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Cutaneous Neuroendocrine Carcinoma
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer ORPHA:79140
Klatskin Tumor
Cholangiocarcinoma, Lymphadenopathy ORPHA:99978
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Dec... ORPHA:572333
Weaver Syndrome
Seizure, Macrotia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:277590
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Rectal abscess, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Rectal abscess, Lymphadenopathy OMIM:233710
Acrofacial Dysostosis, Rodríguez Type
Microtia, Abnormality of the uterus ORPHA:1788
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Rectal abscess, Lymphadenopathy OMIM:233690
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
African Trypanosomiasis
Papilledema, Renal insufficiency, Urinary incontinence, Tremor, Splenomegaly, Keratitis, Abnormal... ORPHA:3385
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Simple febrile seizure, Typical absence... ORPHA:466950
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Splenomegaly, Esophageal varix, Optic atrophy, Lymphadenopathy, Hepatosplenomegaly, Bone marrow h... OMIM:615688
Neuroendocrine Tumor Of Stomach
Chronic noninfectious lymphadenopathy, Hematemesis, Increased circulating ACTH level, Melena, Zol... ORPHA:100075
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse... OMIM:130050
Vascular Ehlers-Danlos Syndrome
Keratoconus, Hypospadias, High, narrow palate, Abnormal pupil morphology, Cryptorchidism, Cystoce... ORPHA:286
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Hematemesis, Splenomegaly, Hematochezia, Nephrot... OMIM:615846
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Splenomegaly, Cervical ly... ORPHA:50918
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Orchitis, Splenomegaly, Lymphadenopathy, Conjunctivitis ORPHA:32960
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Lymphadenopathy, High palate, Bilateral sensorineural hearing imp... OMIM:619418
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Micropenis, Bifid uvu... ORPHA:672
Acute Promyelocytic Leukemia
Hematuria, Lymphadenopathy ORPHA:520
Kinsship Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619297
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Seizure, Generalized non-motor (absence) seizure, Facial palsy ORPHA:258
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus ORPHA:457284
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis, Hypothyroidism, Low-set ears, Lymphadenopathy OMIM:607944
Pancreatoblastoma
Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland,... ORPHA:79078
Multiple Myeloma
Splenomegaly, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, Nephrotic sy... ORPHA:29073
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Conjunctivitis, Lymphadenopathy OMIM:617591
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Conjunctivitis, Lymphadenopathy ORPHA:293173
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Peptic ulcer, Lymphadenopathy ORPHA:98849
Crimean-Congo Hemorrhagic Fever
Proteinuria, Confusion, Hematemesis, Splenomegaly, Orchitis, Epididymitis, Lymphadenopathy, Melen... ORPHA:99827
Brucellosis
Abnormality of the gastrointestinal tract, Glomerulonephritis, Abnormality of the peripheral nerv... ORPHA:1304
Blau Syndrome
Cataract, Facial palsy, Keratitis, Splenomegaly, Xerostomia, Stage 5 chronic kidney disease, Lymp... ORPHA:90340
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Follicular hyperplasia, Splenomegaly, Lymphadenopathy... OMIM:619381
Plague
Hearing impairment, Hematemesis, Splenomegaly, Lymphadenitis, Enterocolitis, Enlarged mesenteric ... ORPHA:707
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Splenomegaly, Anal atresia, Lymphadenopathy ORPHA:1572
Tangier Disease
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenome... ORPHA:31150
Malt Lymphoma
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Rectal abscess, Lymphadenopathy OMIM:306400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Absent peripheral lymph nodes in presence of infection OMIM:600802
Autosomal Recessive Malignant Osteopetrosis
Tremor, Splenomegaly, Lymphadenopathy, Optic nerve compression, Hearing impairment ORPHA:667
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Sensorineural hearing impairment, Typical absence seizure, Protruding ear... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Sensorineural hearing impairment, Typical absence seizure, Protruding ear... ORPHA:352665
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Loeys-Dietz Syndrome
High palate, Bifid uvula, Uterine rupture ORPHA:60030
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Cervical insufficiency, Bladder divertic... ORPHA:287
Q Fever
Hematuria, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:781
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Absent gallbladder, Diabetes mellitus, Intestinal malrotation, Glycosuria, ... OMIM:600001
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Tremor, Sensorineural hearing impairment, Generalized non-motor (... OMIM:612474
Restrictive Dermopathy
Ureteral duplication, Hypospadias, Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cle... ORPHA:1662
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Bilateral tonic-clonic seizure, Abnormal Eustachian tube morphology, Generalized non-motor (absen... ORPHA:513456
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Epididymitis, Elevated circulating thyroid-stimulating hormone concentration, Lymph... OMIM:256040
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Posteriorly rotated ears, Optic nerve hypoplasia, Bilateral tonic-clonic seizure, Generalized non... OMIM:620330
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Bilateral tonic-clonic seizure, Typical absence seizure, Protruding ear, Seizure, Generalized myo... ORPHA:268261
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy ORPHA:100086
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Depression ORPHA:536
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Optic neuropathy, Splenomegaly, Mediastinal lymphadenopathy, Enlarge... OMIM:181000
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Renal insufficiency, Confusion, Orchitis, Odynophagia,... ORPHA:99826
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Generalized non-motor (absence) seizure ORPHA:293978
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Typical absence seizure OMIM:618343
Kawasaki Disease
Proteinuria, Cervical lymphadenopathy, Sterile pyuria, Irritability, Conjunctivitis, Glossitis ORPHA:2331
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Narrow palate, Anteriorly ... OMIM:276820
Helsmoortel-Van Der Aa Syndrome
Posteriorly rotated ears, Facial palsy, Tonic seizure, Typical absence seizure, Cupped ear, Seizu... OMIM:615873
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Posteriorly rotated ears, Generalized non-motor (absence) seizure, Seizure, Abno... ORPHA:2636
Coffin-Lowry Syndrome
Rectal prolapse, Sensorineural hearing impairment, Narrow palate, Protruding ear, High palate, Ut... OMIM:303600
Chikungunya
Depression, Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Pallister-Killian Syndrome
Small scrotum, Renal cyst, Anteriorly placed anus, Bifid uvula, Hypospadias, Cryptorchidism, Apla... OMIM:601803
Carpenter Syndrome 2
Posteriorly rotated ears, Sensorineural hearing impairment, Generalized non-motor (absence) seizu... OMIM:614976
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Optic nerve hypoplasia, Optic atrophy, Generalized non-motor (absence)... ORPHA:500150
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Sotos Syndrome
Aganglionic megacolon, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor, Gen... ORPHA:821
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Focal-onset seizure, Typical absence seizure, Optic disc coloboma, Atonic seizure OMIM:617157
Leptospirosis
Papilledema, Cellular urinary casts, Lymphadenopathy, Conjunctival hyperemia, Acute kidney injury ORPHA:509
Loeys-Dietz Syndrome 3
Cataract, Eosinophilic infiltration of the esophagus, Cystocele, Cleft palate, High palate, Uteri... OMIM:613795
Mowat-Wilson Syndrome
Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Focal-onset seizure, Sensorine... ORPHA:2152
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse, High palate, Bifid uvula, Cleft palate ORPHA:284984
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Focal-onset seizure, Sensorine... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Focal-onset seizure, Sensorine... ORPHA:261552
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure ORPHA:77293
Alström Syndrome
Abnormal vestibular function, Optic disc pallor, Typical absence seizure, Otitis media, Severe se... ORPHA:64

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 Slc17a8

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 Slc17a8.

No publications found that use IMPC mice or data for Slc17a8.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slc17a8tm42931(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc17a8em1(IMPC)Mbp Exon Deletion Mice, Tissue
Slc17a8tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc17a8tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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