Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 ???pagination.result.next???

Disease	Synonyms	Description	Articles	Phenotypes
primary ciliary dyskinesia 45	primary ciliary dyskinesia 45 without situs invers.. [+] primary ciliary dyskinesia 45 without situs inversus; CILD45 [-]	A primary ciliary dyskinesia characterized by abse..[+] A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. [-]
primary ciliary dyskinesia 41	CILD41	A primary ciliary dyskinesia characterized by hype..[+] A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. [-]
photosensitive trichothiodystrophy 2	TTD2	A photosensitive trichothiodystrophy that has_mate..[+] A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. [-]
photosensitive trichothiodystrophy 3	trichothiodystrophy complementation group A; TTD3; .. [+] trichothiodystrophy complementation group A; TTD3 [-]	A photosensitive trichothiodystrophy that has_mate..[+] A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. [-]
photosensitive trichothiodystrophy 1	TTD1	A photosensitive trichothiodystrophy that has_mate..[+] A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. [-]
phosphoglycerate kinase 1 deficiency	PGK1 deficiency; glycogen storage disease due to p.. [+] PGK1 deficiency; glycogen storage disease due to phosphoglycerate kinase 1 deficiency; glycogenosis due to phosphoglycerate kinase 1 deficiency; GSD due to phosphoglycerate kinase 1 deficiency [-]	A glucose metabolism disease characterized by impa..[+] A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. [-]
pituitary adenoma 5	pituitary adenoma 5, multiple types; PITA5	A pituitary adenoma characterized by development o..[+] A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1. [-]
pituitary adenoma 1	pituitary adenoma 1, multiple types; PITA1	A pituitary adenoma characterized by different typ..[+] A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2. [-]
pituitary adenoma 3	pituitary adenoma 3, multiple types; PITA3	A pituitary adenoma characterized by development o..[+] A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. [-]
primary coenzyme Q10 deficiency 9	COQ10D9	A coenzyme Q10 deficiency disease characterized by..[+] A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. [-]
primary ovarian insufficiency 19	premature ovarian failure 19; POI19; POF19	A primary ovarian insufficiency characterized by i..[+] A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22. [-]
pontocerebellar hypoplasia type 1	pontocerebellar hypoplasia with infantile spinal m.. [+] pontocerebellar hypoplasia with infantile spinal muscular atrophy; pontocerebellar hypoplasia with anterior horn cell disease; PCH1; Norman disease [-]	A pontocerebellar hypoplasia characterized by spin..[+] A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. [-]
pontocerebellar hypoplasia type 1D	PCH1D	A pontocerebellar hypoplasia type 1 characterized ..[+] A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. [-]
pontocerebellar hypoplasia type 11	PCH11	A pontocerebellar hypoplasia characterized by seve..[+] A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. [-]
pontocerebellar hypoplasia type 14	PCH14	A pontocerebellar hypoplasia characterized by cong..[+] A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. [-]
pontocerebellar hypoplasia type 15	PCH15	A pontocerebellar hypoplasia that has_material_bas..[+] A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. [-]
pontocerebellar hypoplasia type 12	PCH12; COASY-related pontocerebellar hypoplasia	A pontocerebellar hypoplasia that has_material_bas..[+] A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. [-]
pontocerebellar hypoplasia type 2	PCH2	A pontocerebellar hypoplasia characterized by pont..[+] A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy. [-]
pontocerebellar hypoplasia type 2F	PCH2F	A pontocerebellar hypoplasia type 2 characterized ..[+] A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. [-]
pontocerebellar hypoplasia type 1E	PCH1E	A pontocerebellar hypoplasia type 1 characterized ..[+] A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. [-]
pontocerebellar hypoplasia type 1F	PCH1F	A pontocerebellar hypoplasia type 1 characterized ..[+] A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. [-]
pontocerebellar hypoplasia type 13	PCH13	A pontocerebellar hypoplasia characterized by glob..[+] A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. [-]
pontocerebellar hypoplasia type 16	PCH16	A pontocerebellar hypoplasia characterized by hypo..[+] A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. [-]
pontocerebellar hypoplasia type 1C	PCH1C	A pontocerebellar hypoplasia type 1 characterized ..[+] A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3. [-]
cardiac tamponade	pericardial tamponade; Rose's tamponade	A pericardial effusion in which fluid accumulates ..[+] A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. [-]
cancer	primary cancer; malignant neoplasm; malignant tumo.. [+] primary cancer; malignant neoplasm; malignant tumor [-]	A disease of cellular proliferation that is malign..[+] A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. [-]	140 articles	93 matches
melanotic neuroectodermal tumor	Pigmented neuroectodermal tumour of infancy; Infan.. [+] Pigmented neuroectodermal tumour of infancy; Infantile Melanotic neuroectodermal neoplasm; Melanotic neuroectodermal tumor (morphologic abnormality); Melanotic neuroectodermal tumor of infancy (morphologic abnormality); Melanotic neuroectodermal tumor; Melanotic neuroectodermal tumor of infancy; Melanotic neuroectodermal tumour of infancy; melanotic neuroectodermal tumour; Melanotic neuroectodermal tumour [-]	n_a
neuroectodermal tumor	primitive Neuroectodermal neoplasm	n_a
clear cell acanthoma	Pale (Clear cell) acanthoma; Clear cell acanthoma .. [+] Pale (Clear cell) acanthoma; Clear cell acanthoma (disorder); Clear cell acanthoma (morphologic abnormality); Clear cell acanthoma [-]	n_a
vascular cancer	pulmonary vein malignant neoplasm; pulmonary arter.. [+] pulmonary vein malignant neoplasm; pulmonary artery malignant neoplasm; Blood Vessel neoplasm; blood vessel neoplasm; Blood vessel tumor (morphologic abnormality); Blood vessel tumour disorder; Haemangiomatous tumour; malignant tumor of pulmonary artery; malignant tumor of pulmonary Vein; malignant vascular neoplasm; malignant vascular tumor; renal vein leiomyosarcoma; vascular tissue neoplasm; vascular tumors; Blood vessel tumors (morphologic abnormality); leiomyosarcoma of the renal Vein; Blood vessel tumors; Blood vessel tumor; malignant great vessel tumor; neoplasm of great vessel [-]	A cardiovascular cancer that is located_in blood v..[+] A cardiovascular cancer that is located_in blood vessels. [-]
ossifying fibroma	peripheral ossifying fibroma; Fibro-osteoma	A bone benign neoplasm that is located_in the mout..[+] A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. [-]
calcinosis	Pathologically calcified structure; pathologic cal.. [+] Pathologically calcified structure; pathologic calcification [-]	A calcium metabolism disease that is the result of..[+] A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. [-]
enamel caries	primary dental caries; Dental caries limited to en.. [+] primary dental caries; Dental caries limited to enamel; simple dental cavity [-]	n_a
lateral sclerosis	primary lateral sclerosis; adult-onset primary lat.. [+] primary lateral sclerosis; adult-onset primary lateral sclerosis [-]	A motor neuron disease characterized by painless b..[+] A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. [-]
chorioangioma	Placental hemangioma	n_a
olfactory neuroblastoma	paranasal sinus Olfactory neuroblastoma; Asthesion.. [+] paranasal sinus Olfactory neuroblastoma; Asthesioneuroblastoma (morphologic abnormality); Esthesioneuroepithelioma (morphologic abnormality); Esthesioneuroepithelioma [dup] (morphologic abnormality); Olfactory Esthesioneuroblastoma; Esthesioneuroblastoma (morphologic abnormality); Esthesioneuroepithelioma; Asthesioneuroblastoma; Esthesioneuroblastoma [-]	n_a
external ear disease	Preauricular sinus and fistula; Preauricular cyst; .. [+] Preauricular cyst; Preauricular sinus and fistula; Preauricular cyst (disorder); Preauricular sinus or fistula NOS (disorder); Preauricular sinus or fistula; Preauricular sinus and fistula (disorder) [-]	An auditory system disease that is located_in the ..[+] An auditory system disease that is located_in the external ear. [-]
restrictive cardiomyopathy	primary restrictive cardiomyopathy; primary restri.. [+] primary restrictive cardiomyopathy; primary restrictive cardiomyopathy (disorder); Cardiomyopathy, constrictive; Restrictive cardiomyopathy (disorder); Familial restrictive cardiomyopathy; Restrictive cardiomyopathy [-]	An intrinsic cardiomyopathy characterized by impai..[+] An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. [-]
systemic scleroderma	PSS (progressive systemic sclerosis); progressive .. [+] PSS (progressive systemic sclerosis); progressive systemic sclerosis; Scleroderma; systemic sclerosis; Scleroderma (& [systemic sclerosis]); Scleroderma syndrome [-]	A scleroderma that is characterized by fibrosis (o..[+] A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. [-]
hemangioma of lung	pulmonary hemangioma	n_a
jaw-winking syndrome	Pterygoid-levator synkinesis; Jaw-blinking; Marcus.. [+] Pterygoid-levator synkinesis; Jaw-blinking; Marcus-Gunn syndrome; abnormal innervation syndrome of eyelid [-]	A cranial nerve disease characterized by unilatera..[+] A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. [-]
nerve compression syndrome	peripheral nerve entrapment syndrome; Compression .. [+] peripheral nerve entrapment syndrome; Compression neuropathy; Entrapment Neuropathy; entrapment neuropathy [-]	n_a
cleft palate	Palatoschisis; cleft velum; Uranostaphyloschisis (.. [+] Palatoschisis; cleft velum; Uranostaphyloschisis (disorder) [-]	An orofacial cleft characterized by a fissure of t..[+] An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. [-]	11 articles
juvenile rheumatoid arthritis	Pauciarticular onset juvenile chronic arthritis; p.. [+] Pauciarticular onset juvenile chronic arthritis; pauciarticular juvenile arthritis; acute juvenile rheumatoid arthritis; monarticular juvenile rheumatoid arthritis; juvenile idiopathic arthritis; systemic juvenile rheumatoid arthritis; Still's disease; juvenile chronic polyarthritis [-]	A rheumatoid arthritis that involves an autoimmune..[+] A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. [-]
motor neuritis	peripheral motor neuropathy; peripheral motor neur.. [+] peripheral motor neuropathy; peripheral motor neuropathy (disorder); peripheral motor Neuropathy [-]	n_a
intraocular lymphoma	primary intraocular lymphoma	n_a
neuropathy	peripheral neuropathy	A nervous system disease that is located_in nerves..[+] A nervous system disease that is located_in nerves or nerve cells. [-]	28 articles
anaerobic pneumonia	pneumonia due to anaerobes	An aspiration pneumonia caused by anaerobic bacter..[+] An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease. [-]
bacterial pneumonia	Pneumonia due to other gram-negative bacteria; gra.. [+] Pneumonia due to other gram-negative bacteria; gram-negative pneumonia [-]	A pneumonia involving inflammation of the lungs ca..[+] A pneumonia involving inflammation of the lungs caused by bacteria. [-]
autosomal dominant polycystic kidney disease	POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; Congenita.. [+] POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; Congenital biliary ectasias; ADPKD [-]	A polycystic kidney disease characterized by the p..[+] A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. [-]	11 articles

???pagination.result.page??? ???pagination.result.prev??? 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 ???pagination.result.next???