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Disease	Synonyms	Description
Muenke Syndrome	FGFR3-related craniosynostosis;	A craniosyntosis characterized by autosomal domina..[+] A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. [-]
Muir-Torre syndrome		n_a
Mulchandani-Bhoj-Conlin syndrome	maternal uniparental disomy of chromosome 20; mate.. [+] maternal uniparental disomy of chromosome 20; maternal UPD(20); MBCS; UPD(20)mat; [-]	A syndrome characterized by prenatal growth restri..[+] A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13. [-]
Mullegama-Klein-Martinez syndrome	MKMS; NEDXCF; X-linked neurodevelopmental disorder.. [+] MKMS; NEDXCF; X-linked neurodevelopmental disorder with craniofacial abnormalities; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. [-]
Munchausen by proxy		A factitious disorder that involves a care giver's..[+] A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. [-]
Murray Valley encephalitis	Australian encephalitis; Australian X disease;	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. [-]
Mycobacterium avium complex disease	Infection due to Mycobacterium intracellulare; Inf.. [+] Infection due to Mycobacterium intracellulare; Infection due to Mycobacterium intracellulare (disorder); MAC disease; Mycobacterium avium Complex; Mycobacterium Avium Infection; [-]	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. [-]
N syndrome	NSX;	n_a
N1 diffuse large B-cell lymphoma	N1 DLBCL;	A diffuse large B-cell lymphoma that is categorize..[+] A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. [-]
NGLY1-deficiency	congenital disorder of deglycosylation; congenital.. [+] congenital disorder of deglycosylation; congenital disorder of glycosylation type Iv; deficiency of N-glycanase 1; NGLY1-CDDG; [-]	A carbohydrate metabolic disorder that has_materia..[+] A carbohydrate metabolic disorder that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. It is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production. [-]
NUT midline carcinoma	nuclear protein in testis midline carcinoma;	A carcinoma that is characterized by a BRD4-NUT tr..[+] A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. [-]
Naegeli-Franceschetti-Jadassohn syndrome	Naegeli syndrome; NFJ syndrome;	A ectodermal dysplasia characterized by reticulate..[+] A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. [-]
Nager acrofacial dysostosis	acrofacial dysostosis 1, Nager type; AFD; Nager sy.. [+] acrofacial dysostosis 1, Nager type; AFD; Nager syndrome; preaxial acrofacial dysostosis; preaxial manibulofacial dysostosis; [-]	An acrofacial dysostosis characterized by underdev..[+] An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. [-]
Nance-Horan syndrome		An X-linked disease that has_material_basis_in mut..[+] An X-linked disease that has_material_basis_in mutation in the NHS gene on chromosome Xp22. It is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. [-]
Nasu-Hakola disease	NHD; PLO-SL; PLOSL; polycystic lipomembranous oste.. [+] NHD; PLO-SL; PLOSL; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; presenile dementia with bone cysts; progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease ; [-]	A syndrome that is characterized by progressive pr..[+] A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. [-]
Native American myopathy	Bailey-Bloch congenital myopathy; congenital myopa.. [+] Bailey-Bloch congenital myopathy; congenital myopathy 13; [-]	A congenital myopathy that is characterized by con..[+] A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. [-]
Nelson syndrome	Nelson's syndrome;	n_a
Nestor-Guillermo progeria syndrome	Progeria syndrome, childhood-onset, with osteolysi.. [+] Progeria syndrome, childhood-onset, with osteolysis; [-]	A progeroid syndrome that is characterized by lipo..[+] A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. [-]
Netherton syndrome		n_a
Neu-Laxova syndrome 1		n_a
Neu-Laxova syndrome 2		A serine deficiency that is characterized by multi..[+] A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine. [-]
Newcastle disease	Newcastle's disease; Pseudo-fowlpest;	A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. [-]
Newfoundland cone-rod dystrophy	NFRCD;	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. [-]
Nezelof syndrome	Nezelof's syndrome; Nezelof's syndrome (disorder);.. [+] Nezelof's syndrome; Nezelof's syndrome (disorder); T-lymphocyte deficiency; [-]	n_a
Niemann-Pick disease	lipoid histiocytosis (classical phosphatide); Niem.. [+] lipoid histiocytosis (classical phosphatide); Niemann-Pick disease type A; Niemann-Pick disease type B; Niemann-Pick disease type C; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease, subacute juvenile form; sphingomyelin lipidosis; Sphingomyelinase Deficiency Disease; Type A Niemann-Pick Disease; [-]	A sphingoliidosis characterized by the accumulatio..[+] A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. [-]
Niemann-Pick disease type A		A Niemann-Pick disease characterized by onset in i..[+] A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4. [-]
Niemann-Pick disease type B		A Niemann-Pick disease characterized by visceral i..[+] A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. [-]
Niemann-Pick disease type C1	NPC1;	A Niemann-Pick disease that has_material_basis_in ..[+] A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2. [-]
Niemann-Pick disease type C2	NPC2;	A Niemann-Pick disease that has_material_basis_in ..[+] A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC2 on chromosome 14q24.3. [-]
Nijmegen breakage syndrome	Berlin breakage syndrome; Microcephaly, normal int.. [+] Berlin breakage syndrome; Microcephaly, normal intelligence and immunodeficiency (disorder); Seemanova syndrome; [-]	n_a
Noonan syndrome	Turner's phenotype, karyotype normal (disorder); T.. [+] Turner's phenotype, karyotype normal (disorder); Turner's phenotype, karyotype normal; [-]	A RASopathy that is characterized by mildly unusua..[+] A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. [-]
Noonan syndrome 1	NS1;	A Noonan syndrome that has_material_basis_in the P..[+] A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. [-]
Noonan syndrome 10	NS10;	A Noonan syndrome that has_material_basis_in heter..[+] A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. [-]
Noonan syndrome 11	NS11;	A Noonan syndrome characterized by clinical charac..[+] A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3. [-]
Noonan syndrome 2	NS2;	A Noonan syndrome characterized by hypertrophic ob..[+] A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in an autosomal recessive inheritance. [-]
Noonan syndrome 3	NS3;	A Noonan syndrome that has_material_basis_in heter..[+] A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. [-]
Noonan syndrome 4	NS4;	A Noonan syndrome that has_material_basis_in heter..[+] A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. [-]
Noonan syndrome 5	NS5;	A Noonan syndrome that has_material_basis_in mutat..[+] A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. [-]
Noonan syndrome 6	NS6;	A Noonan syndrome that has_material_basis in hete..[+] A Noonan syndrome that has_material_basis in heterozygous mutation in the NRAS gene on chromosome 1p13. [-]
Noonan syndrome 7	NS7;	A Noonan syndrome that has_material_basis in heter..[+] A Noonan syndrome that has_material_basis in heterozygous mutation in the BRAF gene. [-]
Noonan syndrome 8	NS8;	A Noonan syndrome that has_material_basis_in aused..[+] A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22. [-]
Noonan syndrome 9	NS9;	A Noonan syndrome that has_material_basis_in heter..[+] A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. [-]
Noonan syndrome with multiple lentigines 2	LEOPARD syndrome 2;	A Noonan syndrome with multiple lentigines that ha..[+] A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25. [-]
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. [-]
Norman-Roberts syndrome	lissencephaly 2; lissencephaly syndrome, Norman-Ro.. [+] lissencephaly 2; lissencephaly syndrome, Norman-Roberts type; [-]	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	atrophia bulborum hereditaria; Episkopi blindness;.. [+] atrophia bulborum hereditaria; Episkopi blindness; Norrie-Warburg disease; [-]	A X-linked disease characterized by X-linked reces..[+] A X-linked disease characterized by X-linked recessive inheritance of 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 that has_material_basis_in mutation in the NDP gene on chromosome Xp11. [-]
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 O'nyong-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; [-]	An X-linked disease resulting from a deficiency in..[+] An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys. [-]
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. [-]

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