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Disease	Synonyms	Description	Articles
Noonan syndrome-like disorder with loose anagen hair		A RASopathy that is characterized by macrocephaly,..[+] A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. [-]
Noonan syndrome-like disorder with loose anagen hair 1		A Noonan-like syndrome with loose anagen hair that..[+] A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25. [-]
Noonan syndrome-like disorder with loose anagen hair 2		A Noonan syndrome-like disorder with loose anagen ..[+] A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23. [-]
Norman-Roberts syndrome	lissencephaly syndrome, Norman-Roberts type; lisse.. [+] lissencephaly syndrome, Norman-Roberts type; lissencephaly 2; [-]	A lissencephaly that has_material_basis_in homozyg..[+] A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. [-]
Norrie disease	Norrie-Warburg disease; Episkopi blindness; atroph.. [+] Norrie-Warburg disease; Episkopi blindness; atrophia bulborum hereditaria; [-]	A syndrome characterized by degenerative and proli..[+] A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. [-]	1 articles
North Carolina macular dystrophy	central areolar pigment epithelial dystrophy; cent.. [+] central areolar pigment epithelial dystrophy; central retinal pigment epithelial dystrophy; MCDR1; NCMD; progressive foveal dystrophy; retinal macular dystrophy 1; [-]	A retinal macular dystrophy characterized by limit..[+] A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. [-]
Norum disease	lecithin acyltransferase deficiency; LECITHIN:CHOL.. [+] lecithin acyltransferase deficiency; LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY; LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY; [-]	n_a
O'nyong'nyong fever		A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. [-]
Ogden syndrome	N-alpha-acetyltransferase; N-terminal acetyltransf.. [+] N-alpha-acetyltransferase; N-terminal acetyltransferase deficiency; OGDNS; X-linked Malformation and Infantile Lethality Syndrome; [-]	A syndrome characterized by postnatal growth failu..[+] A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28. [-]
Oguchi disease-1	congenital stationary night blindness Oguchi type .. [+] congenital stationary night blindness Oguchi type 1; CSNBO1; [-]	A hereditary night blindness characterized by cong..[+] A hereditary 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 or compound heterozygous mutation in the SAG gene on chromosome 2q37. [-]
Oguchi disease-2	congenital stationary night blindness Oguchi type .. [+] congenital stationary night blindness Oguchi type 2; CSNBO2; [-]	A hereditary night blindness characterized by cong..[+] A hereditary 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. [-]
Ohdo syndrome, SBBYS variant	Say-Barber-Biesecker-Young-Simpson syndrome; SBBYS.. [+] Say-Barber-Biesecker-Young-Simpson syndrome; SBBYSS; Ohdo syndrome, SBBYS Variant; blepharophimosis-intellectual disability syndrome, SBBYS type; [-]	A Ohdo syndrome that is characterized by blepharop..[+] A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22. [-]
Oliver-McFarlane syndrome	long eyelashes-intellectual disability syndrome; O.. [+] long eyelashes-intellectual disability syndrome; OMCS; trichomegaly-retina pigmentary degeneration-dwarfism syndrome; eyelashes long mental retardation; [-]	A syndrome characterized by trichomegaly, severe c..[+] A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. [-]
Ollier disease	DYSCHONDROPLASIA; ENCHONDROMATOSIS, MULTIPLE; Kast.. [+] DYSCHONDROPLASIA; ENCHONDROMATOSIS, MULTIPLE; Kast's syndrome; OSTEOCHONDROMATOSIS; Enchondromatosis with haemangiomata; [-]	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. [-]
Opitz GBBB syndrome	Opitz G/BBB Syndrome; Opitz GBBB syndrome type I;	A syndrome that is a congenital midline malformati..[+] A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. [-]
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	Osgood-Schlatter disease; Osteochondritis of tibia.. [+] Osgood-Schlatter disease; Osteochondritis of tibial tubercle; juvenile osteochondrosis 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 characterized by pyoderma gangr..[+] A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. [-]
PCWH syndrome	PCWH; Peripheral Demyelinating Neuropathy, Central.. [+] PCWH; Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease; Neurologic Waardenburg-Shah syndrome; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome; [-]	A syndrome that is characterized by the associatio..[+] A syndrome that is 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, and has_material_basis_in heterozygous mutation in the SRY-box 10 (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. [-]
PFAPA syndrome	Marshall syndrome with periodic fever; Periodic fe.. [+] Marshall syndrome with periodic fever; Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome; [-]	An autoimmune disease that is characterized by rec..[+] An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. [-]
PHARC syndrome	polyneyropathy, hearing loss, ataxia, retinitis pi.. [+] polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; [-]	A syndrome that is characterized by polyneuropathy..[+] A syndrome 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. [-]
PLACK syndrome	peeling skin with leukonychia, acral punctate kera.. [+] peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads; [-]	An skin disease characterized by peeling skin in a..[+] An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. [-]
POEMS syndrome		A blood protein disease that is characterized by p..[+] A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation. [-]
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 tumor (morphologic.. [+] Pacinian Neurofibroma; Pacinian tumor (morphologic abnormality); Pacinian neurofibroma (disorder); Pacinian neurofibroma; [-]	n_a
Paganini-Miozzo syndrome	MRXSPM;	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. [-]
Paget's disease of bone	Familial Paget's disease of bone; osteitis deforma.. [+] Familial Paget's disease of bone; osteitis deformans; Paget's bone disease; osseous Paget's disease; Paget disease of bone; [-]	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 3	Paget disease of bone-3;	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 SQSTM1 gene on chromosome 5q35. [-]
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. [-]
Paget's disease of bone 5	Familial osteoectasia; Hereditary hyperphosphatasi.. [+] Familial osteoectasia; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis; Juvenile Paget disease; Paget disease of bone-5; [-]	A Paget's disease of bone that is characterized by..[+] A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. [-]
Paget's disease of bone 6	Paget disease of bone-6;	A Paget's disease of bone that is characterized by..[+] A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. [-]
Pallister-Hall syndrome	Pallister-Hall syndrome (disorder); A syndrome tha.. [+] Pallister-Hall syndrome (disorder); 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.; [-]	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. [-]	1 articles
Pancoast tumor	malignant Superior Sulcus tumor; Pancoast's syndro.. [+] malignant Superior Sulcus tumor; Pancoast's syndrome; pulmonary sulcus tumor; Superior pulmonary sulcus syndrome (disorder) [Ambiguous]; Pancoast's tumour; malignant Superior Sulcus tumour; Pancoast tumour; Superior pulmonary sulcus syndrome; pulmonary sulcus tumour; [-]	n_a
Papillon-Lefevre disease	Papillon-Lefvre syndrome (disorder); Papillon Lefe.. [+] Papillon-Lefvre syndrome (disorder); Papillon Lefevre syndrome; Papillon-Lefvre syndrome; [-]	An ectodermal dysplasia that is characterized by p..[+] An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14. [-]
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	Parkinson disease; paralysis agitans;	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. [-]	15 articles
Parkinson's disease 19A	juvenile onset Parkinson disease 19A; juvenile ons.. [+] juvenile onset Parkinson disease 19A; juvenile onset Parkinson's disease 19A; [-]	An early-onset Parkinson's diseas that has_materia..[+] An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. [-]
Parkinson's disease 25	autosomal recessive early-onset Parkinson disease .. [+] autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development; PARK25; [-]	An early-onset Parkinson's disease characterized b..[+] An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. [-]
Parkinson's disease 6	early-onset Parkinson disease 6; autosomal recessi.. [+] early-onset Parkinson disease 6; autosomal recessive early-onset Parkinson disease 6; autosomal recessive early-onset Parkinson's disease 6; PARK6; [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. [-]
Parkinsonism		A movement disorder that is characterized by distu..[+] A movement disorder that is characterized by disturbances of balance, gait and posture. [-]
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 ; trisomy 13; Patau's syndrome;	n_a

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