Echinobase

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??? 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 ???pagination.result.next???

Disease	Synonyms	Description
Oguchi disease-2	congenital stationary night blindness Oguchi type .. [+] congenital stationary night blindness Oguchi type 2; CSNBO2; [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. [-]
Ohdo syndrome	Ohdo blepharophimosis syndrome;	A syndrome that is characterized by blepharophimos..[+] A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. [-]
Ohtahara syndrome	Early Infantile Epileptic Encephalopathy ; Early I.. [+] Early Infantile Epileptic Encephalopathy ; Early Infantile Epileptic Encephalopathy with Burst-Suppression; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; [-]	A neonatoal period electroclinical syndrome that i..[+] A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. [-]
Ollier disease	DYSCHONDROPLASIA; Enchondromatosis with haemangiom.. [+] DYSCHONDROPLASIA; Enchondromatosis with haemangiomata; ENCHONDROMATOSIS, MULTIPLE; Kast's syndrome; OSTEOCHONDROMATOSIS; [-]	A syndrome that is characterized by an asymmetric ..[+] A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. [-]
Omenn syndrome	combined immunodeficiency with hypereosinophilia;	A severe combined immunodeficiency that has_materi..[+] A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. [-]
Omsk hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum. [-]
Oropouche fever		A viral infectious disease that results in infecti..[+] A viral infectious disease that results in infection, has_material_basis_in Oropouche virus, which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting. [-]
Osgood-Schlatter's disease	juvenile osteochondrosis of tibial tubercle; Osgoo.. [+] juvenile osteochondrosis of tibial tubercle; Osgood-Schlatter disease; Osteochondritis of tibial tubercle; Osteochondrosis of proximal tibia; [-]	A bone inflammation disease that involves rupture ..[+] A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. [-]
PAPA syndrome	pyogenic arthritis, pyoderma gangrenosum and acne;.. [+] pyogenic arthritis, pyoderma gangrenosum and acne; [-]	A syndrome that is characterised by pyoderma gangr..[+] A syndrome that is characterised by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. [-]
PCWH syndrome	Neurologic Waardenburg-Shah syndrome; PCWH; Periph.. [+] Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome; [-]	An autosomal dominant disease characterized by the..[+] An autosomal dominant disease characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including; neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. [-]
PEHO syndrome		A brain disease that is characterized by extreme c..[+] A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. [-]
PHARC syndrome	polyneyropathy, hearing loss, ataxia, retinitis pi.. [+] polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; [-]	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. [-]
PHGDH deficiency	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY;	A serine deficiency that has_material_basis_in def..[+] A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. [-]
POEMS syndrome		n_a
PSAT deficiency	Phosphoserine aminotransferase deficiency;	A serine deficiency that has_material_basis_in def..[+] A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. [-]
PSPH deficiency	Phosphoserine phosphatase deficiency; PSPHD;	A serine deficiency that has_material_basis_in def..[+] A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. [-]
PTEN hamartoma tumor syndrome		A syndrome characterized as a spectrum of disorder..[+] A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. [-]
Pacinian tumor	Pacinian Neurofibroma; Pacinian neurofibroma (diso.. [+] Pacinian Neurofibroma; Pacinian neurofibroma (disorder); Pacinian tumor (morphologic abnormality); [-]	n_a
Paget's disease of bone	Familial Paget's disease of bone; osseous Paget's .. [+] Familial Paget's disease of bone; osseous Paget's disease; osteitis deformans; Paget disease of bone; Paget's bone disease; [-]	A bone formation disease that has_material_basis_i..[+] A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. [-]
Paget's disease of bone 2	Paget disease of bone-2;	A Paget's disease of bone that has_material_basis_..[+] A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. [-]
Paget's disease of bone 4	Paget disease of bone-4;	A Paget's disease of bone that has_material_basis_..[+] A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. [-]
Pallister-Hall syndrome	Pallister-Hall syndrome (disorder);	A syndrome that is characterized by hypothalamic h..[+] A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14. [-]
Pancoast tumor	malignant Superior Sulcus tumor; Pancoast's syndro.. [+] malignant Superior Sulcus tumor; Pancoast's syndrome; Pancoast's tumour; pulmonary sulcus tumor; Superior pulmonary sulcus syndrome (disorder) [Ambiguous]; [-]	n_a
Papillon-Lefevre disease	Papillon Lefevre syndrome; Papillon-Lefvre syndrom.. [+] Papillon Lefevre syndrome; Papillon-Lefvre syndrome (disorder); [-]	n_a
Parkinson disease 17	autosomal dominant Parkinson disease 17;	A late-onset Parkinson disease that has_material_b..[+] A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. [-]
Parkinson's disease	paralysis agitans; Parkinson disease;	A synucleinopathy that has_material_basis_in degen..[+] A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. [-]
Parkinson's disease 2	autosomal recessive juvenile Parkinson disease 2; .. [+] autosomal recessive juvenile Parkinson disease 2; autosomal recessive juvenile Parkinson's disease 2; [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. [-]
Parkinson's disease 21	PARK21; Parkinson disease 21;	A late onset Parkinson's disease characterized by ..[+] A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years. [-]
Parkinson's disease 3	autosomal dominant Lewy body Parkinson disease 3; .. [+] autosomal dominant Lewy body Parkinson disease 3; autosomal dominant Parkinson disease 3; PARK3; Parkinson disease 3; [-]	A late onset Parkinson's disease characterized by ..[+] A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region. [-]
Parkinson's disease 7	autosomal recessive early-onset Parkinson disease .. [+] autosomal recessive early-onset Parkinson disease 7; autosomal recessive early-onset Parkinson's disease 7; [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. [-]
Partington syndrome	X-linked Russell-Silver syndrome;	A syndrome characterized by intellectual disabilit..[+] A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. [-]
Patau syndrome	D1 Trisomy ; Patau's syndrome; trisomy 13;	n_a
Pearson syndrome	Pearson Marrow-Pancreas Syndrome;	A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. [-]
Pediculus humanus capitis infestation	head louse infestation; Pediculosis capitis (disor.. [+] head louse infestation; Pediculosis capitis (disorder); Pediculus capitis; Pediculus capitis [head louse]; Pediculus capitis infestation; [-]	A lice infestation that involves colonization of t..[+] A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability. [-]
Pediculus humanus corporis infestation	body louse infestation; Pediculus corporis; Pedicu.. [+] body louse infestation; Pediculus corporis; Pediculus corporis [body louse]; Pediculus humanus infestation; [-]	A lice infestation that is a cutaneous condition c..[+] A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever. [-]
Pelger-Huet anomaly		n_a
Pelizaeus-Merzbacher disease	diffuse familial brain sclerosis; HLD1; hypomyelin.. [+] diffuse familial brain sclerosis; HLD1; hypomyelinating leukodystrophy 1; Leukodystrophy, sudanophilic; Pelizaeus Merzbacher brain sclerosis; Pelizaeus-Merzbacher brain sclerosis; PMD; sudanophilic leukodystrophy, Paelizeus-Merzbacher type; [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. [-]
Pendred Syndrome	congenital hypothyroidism due to dyshormonogenesis.. [+] congenital hypothyroidism due to dyshormonogenesis 2B; deafness with goiter; genetic defect in thyroid hormonogenesis 2B; goiter-deafness syndrome; TDH2B; thyroid dyshormonogenesis 2B; [-]	An autosomal recessive disease characterized by bi..[+] An autosomal recessive disease characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. [-]
Perlman syndrome	nephroblastomatosis - fetal ascites - macrosomia -.. [+] nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor; nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor; renal hamartomas, nephroblastomatosis and fetal gigantism; [-]	A syndrome characterized by polyhydramnios with ne..[+] A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. [-]
Perrault syndrome		An autosomal recessive disesase that is characteri..[+] An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure. [-]
Perry syndrome	parkinsonism with alveolar hypoventilation and men.. [+] parkinsonism with alveolar hypoventilation and mental depression; [-]	A syndrome characterized by parkinsonism, hypovent..[+] A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13. [-]
Peters anomaly		A corneal disease characterized by a central corne..[+] A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. [-]
Peters plus syndrome	Krause-Kivlin syndrome; Peters anomaly-short limb .. [+] Krause-Kivlin syndrome; Peters anomaly-short limb dwarfism syndrome; Peters-plus syndrome; [-]	A syndrome that is characterized by anterior chamb..[+] A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. [-]
Peutz-Jeghers syndrome	Colonic hamartomatous polyp; gastric Peutz-Jeghers.. [+] Colonic hamartomatous polyp; gastric Peutz-Jeghers polyp; Peutz Jeghers colon polyp; Peutz Jeghers polyp; Peutz-Jeghers polyp of small Intestine; peutz-jeghers small bowel hamartoma; [-]	n_a
Peyronie's disease	Induratio penis plastica; Peyronie disease; Peyron.. [+] Induratio penis plastica; Peyronie disease; Peyronie's Fibromatosis; [-]	n_a
Pfeiffer syndrome	acrocephalosyndactylia type V;	An acrocephalosyndactylia that has_material_basis_..[+] An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. [-]
Phelan-McDermid syndrome	22q13.3 deletion syndrome; monosomy 22q13 syndrome.. [+] 22q13.3 deletion syndrome; monosomy 22q13 syndrome; [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. [-]
Phlebotomus fever	pappataci fever; Sandfly fever; Sandfly-borne arbo.. [+] pappataci fever; Sandfly fever; Sandfly-borne arboviral fever; Sandfly-borne bunyavirus fever (disorder); Sandfly-borne phleboviral disease; Sandfly-borne bunyavirus fever; [-]	A viral infectious disease that results in infecti..[+] A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia. [-]
Phlegmonous dacryocystitis		n_a
Pick's disease	Dementia in Pick's disease (disorder); LOBAR ATROP.. [+] Dementia in Pick's disease (disorder); LOBAR ATROPHY OF BRAIN; Pick disease; PICK DISEASE OF BRAIN; [-]	n_a

???pagination.result.page??? ???pagination.result.prev??? 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 ???pagination.result.next???