Conditions
Starting with J
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Jaccoud'S SyndromeAn autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated wJackson-Weiss SyndromeA syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that is caused by heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.Jacobsen SyndromeA chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that is caused by deletion of termJalili SyndromeA syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that is caused by homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2.Jansen'S Metaphyseal ChondrodysplasiaA metaphyseal dysplasia that is caused by mutation in PTH receptor which causes short-limbed dwarfism.Janus Kinase-3 DeficiencyA severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops from janus kinase-3 deficiency, andJapanese EncephalitisA viral infectious disease that causes infection in brain, is caused by Japanese encephalitis virus (Orthoflavivirus japonicum), which is transmitted by Culex tritaeniorhynchus mosquito bite. The infection causes headachJapanese Spotted FeverA spotted fever that is caused by Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection causes fever, causes eschars, causes regional adenopathy, and causes rJaw CancerA bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone.Jaw-Winking SyndromeA cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw.Jejunal AdenocarcinomaA jejunal cancer that is in the jejunum and is caused by epithelial tissue that has glandular origin.JejunoileitisAn inflammatory bowel disease that is characterized by patchy areas of inflammation in jejunum, causes abdominal pain, causes diarrhea, causes cramps and causes formation of fistulas.Jet LagTemporary sleep disruption from crossing time zones.Johanson-Blizzard SyndromeA syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner.Joint Laxity, Short Stature, and MyopiaA syndrome characterized by joint laxity, short stature, and severe myopia with prominent eyes that is caused by homozygous mutation in the GZF1 gene on chromosome 20p11.Joubert SyndromeA ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in acJoubert Syndrome 1A Joubert syndrome that is caused by homozygous mutation in the INPP5E gene on chromosome 9q34.Joubert Syndrome 10A Joubert syndrome that is caused by X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2.Joubert Syndrome 13A Joubert syndrome that is caused by homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.Joubert Syndrome 14A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features tJoubert Syndrome 15A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that is caused by homozygous mutation in the CEP41 gene on chromosome 7q32.Joubert Syndrome 16A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that is caused by homozygous mutation in the TMEM138 gene on chromosome 11q.Joubert Syndrome 17A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that is caused by compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.Joubert Syndrome 18A Joubert syndrome that is caused by homozygous mutation in the TCTN3 gene on chromosome 10q24.Joubert Syndrome 2A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that is caused by mutation in the TMEM216 gene on chromosome 11q12.2.Joubert Syndrome 20A Joubert syndrome that is caused by compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.Joubert Syndrome 21A Joubert syndrome that is caused by homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13.Joubert Syndrome 22A Joubert syndrome that is caused by homozygous mutation in the PDE6D gene on chromosome 2q37.Joubert Syndrome 23A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that is caused by homozygous or compound heterozygous mutation in the KIAJoubert Syndrome 24A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that is caused by homozygous mutation in the TCTN2 gene on chromosome 12q24.Joubert Syndrome 25A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that is caused by homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1Joubert Syndrome 26A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that is caused by homozygous mutation in the KIAA0556 gene on chromosome 16p12.Joubert Syndrome 27A Joubert syndrome that is caused by homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.Joubert Syndrome 28A Joubert syndrome that is caused by homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.Joubert Syndrome 29A Joubert syndrome that is caused by homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.Joubert Syndrome 3A Joubert syndrome that is caused by homozygous mutation in the AHI1 gene on chromosome 6q23.3.Joubert Syndrome 30A Joubert syndrome that is caused by homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37.Joubert Syndrome 31A Joubert syndrome that is caused by homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23.Joubert Syndrome 32A Joubert syndrome that is caused by homozygous mutation in the SUFU gene on chromosome 10q24.Joubert Syndrome 33A Joubert syndrome that is caused by homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21.Joubert Syndrome 4A Joubert syndrome that is caused by deletions of the NPHP1 gene on chromosome 2q13.Joubert Syndrome 5A Joubert syndrome that is caused by mutation in the CEP290 gene on chromosome 12q21.Joubert Syndrome 6A Joubert syndrome that is caused by homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.Joubert Syndrome 7A Joubert syndrome that is caused by mutation in the RPGRIP1L gene on chromosome 16q12.2.Joubert Syndrome 8A Joubert syndrome that is caused by mutation in the ARL13B gene on chromosome 3q11.1-q11.2.Joubert Syndrome 9A Joubert syndrome that is caused by homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.Joubert Syndrome with Orofaciodigital DefectA Joubert syndrome that is characterized by orofaciodigital defect.Junctional Epidermolysis BullosaAn epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalitiJunctional Epidermolysis Bullosa Herlitz TypeA junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that is causJunctional Epidermolysis Bullosa Non-Herlitz TypeA junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that is caused by homozygous or compound heterozygous mutation in several genes inJunctional Epidermolysis Bullosa with Pyloric AtresiaA junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that is caused by mutations in theJuvenile Absence EpilepsyAn adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.Juvenile Absence Epilepsy 1A juvenile absence epilepsy that is caused by heterozygous mutation in EFHC1 on 6p12.2.Juvenile Amyotrophic Lateral Sclerosis Type 27An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness wJuvenile Amyotrophic Lateral Sclerosis with DementiaA juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.Juvenile Ankylosing SpondylitisAn ankylosing spondylitis with onset during childhood.Juvenile GlaucomaA primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures.Juvenile Myelomonocytic LeukemiaA myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.Juvenile Myoclonic EpilepsyA common epilepsy syndrome with myoclonic jerks.Juvenile Myoclonic Epilepsy 10A juvenile myoclonic epilepsy that is caused by heterozygous mutation in ICK on chromosome 6p12.1.Juvenile Myoclonic Epilepsy 3A juvenile myoclonic epilepsy that is caused by variation in a region on chromosome 6p21.Juvenile Myoclonic Epilepsy 4A juvenile myoclonic epilepsy that is caused by variation in a region on chromosome 5q12-q14.Juvenile Myoclonic Epilepsy 9A juvenile myoclonic epilepsy that is caused by heterozygous variation in a region on chromosome 2q33-q36.Juvenile-Onset Parkinson'S DiseaseAn early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age.Juvenile Pilocytic AstrocytomaA pilocytic astrocytoma that occurs during adolescence.Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia SyndromeA syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointeJuvenile Polyposis SyndromeA gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.Juvenile Spinal Muscular AtrophyA childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that is caused by homozygous or compound heterJuvenile XanthogranulomaA non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in col
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