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Disease	Synonyms	Description
MHC class II deficiency	bare lymphocyte syndrome type II; BLSII; SCID due .. [+] bare lymphocyte syndrome type II; BLSII; SCID due to absent class II HLA antigens (disorder); [-]	n_a
MYH-9 related disease		A blood platelet disease that has_material_basis_i..[+] A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. [-]
Machado-Joseph disease	Azorean disease; MJD; spinocerebellar ataxia 3; sp.. [+] Azorean disease; MJD; spinocerebellar ataxia 3; spinocerebellar ataxia type 3; [-]	An autosomal dominant cerebellar ataxia that is ch..[+] An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. [-]
Maffucci syndrome		A syndrome characterized by the presence of multip..[+] A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. [-]
Marburg hemorrhagic fever	Marburg disease; Marburg virus disease;	A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. [-]
Marfan syndrome	Marfan's syndrome;	A connective tissue disease that is characterized ..[+] A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. [-]
Marinesco-Sjogren syndrome	Garland-Moorhouse syndrome; hereditary oligophreni.. [+] Garland-Moorhouse syndrome; hereditary oligophrenic cerebello-lental degeneration; Marinesco-Garland syndrome; [-]	An autosomal recessive disease characterized by co..[+] An autosomal recessive disease characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. [-]
Marshall syndrome	deafness, myopia, cataract, saddle nose-Marshall t.. [+] deafness, myopia, cataract, saddle nose-Marshall type; MRSHS; [-]	An ectodermal dysplasia characterized by hypoplasi..[+] An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. [-]
Marshall-Smith syndrome		A syndrome that is characterized by advanced bone ..[+] A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. [-]
Mast syndrome	autosomal recessive spastic paraplegia 21; autosom.. [+] autosomal recessive spastic paraplegia 21; autosomal recessive spastic paraplegia type 21; hereditary spastic paraplegia 21; SPG21; [-]	A hereditary spastic paraplegia associated with de..[+] A hereditary spastic paraplegia associated with dementia. [-]
Masters-Allen syndrome	Broad ligament laceration syndrome;	A female reproductive system disease that is chara..[+] A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery. [-]
Matthew-Wood syndrome	MCOPS9; microphthalmia syndromic type 9 ;	An autosomal genetic disease that is characterized..[+] An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. [-]
Mayer-Rokitansky-Kuster-Hauser syndrome	MRKH syndrome; Rokitansky syndrome;	A syndrome characterized by aplasia of the uterus ..[+] A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. [-]
McCune Albright syndrome	fibrous Dysplasia of bone; fibrous dysplasia of bo.. [+] fibrous Dysplasia of bone; fibrous dysplasia of bone (disorder); osteitis fibrosa disseminata; polyostotic fibrous dysplasia; [-]	An autosomal dominant disease that involves skin p..[+] An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It has material basis in mutations in the GNAS1 gene. [-]
Meckel syndrome	Meckel-Gruber syndrome;	A ciliopathy that is characterized by renal cystic..[+] A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. [-]
Meckel syndrome 1	Meckel-Gruber syndrome, type 1; MKS1;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of MKS1 on chromosome 17q22. [-]
Meckel syndrome 2	Meckel-Gruber syndrome, type 2; MKS2;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. [-]
Meckel syndrome 3	Meckel-Gruber syndrome, type 3; MKS3;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM67 on chromosome 8q22.1. [-]
Meckel syndrome 4	Meckel-Gruber syndrome, type 4; MKS4;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32. [-]
Meckel syndrome 5	Meckel-Gruber syndrome, type 5; MKS5;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. [-]
Meckel syndrome 6	Meckel-Gruber syndrome, type 6; MKS6;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CC2D2A on chromosome 4p15.32. [-]
Meckel syndrome 7	Meckel-Gruber syndrome, type 7; MKS7;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1. [-]
Meckel syndrome 8	Meckel-Gruber syndrome, type 8; MKS8;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TCTN2 on chromosome 12q24.31. [-]
Meckel's diverticulitis	Meckel diverticulitis; Meckel's diverticulitis (di.. [+] Meckel diverticulitis; Meckel's diverticulitis (disorder); [-]	A diverticulits characterized by the inflammation ..[+] A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth. [-]
Meckel's diverticulum	Meckel Diverticulum; Persistent vitelline duct;	n_a
Meckel's diverticulum cancer	malignant neoplasm of Meckel's diverticulum; Mecke.. [+] malignant neoplasm of Meckel's diverticulum; Meckel diverticulum cancer; [-]	n_a
Meesmann corneal dystrophy	juvenile hereditary epithelial dystrophy; MECD; St.. [+] juvenile hereditary epithelial dystrophy; MECD; Stocker-Holt dystrophy; [-]	n_a
Meier-Gorlin syndrome	ear-patella-short stature syndrome;	An autosomal recessive disorder characterized by s..[+] An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae. [-]
Meier-Gorlin syndrome 1		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32. [-]
Meier-Gorlin syndrome 5		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in homozygous mutation in the CDC6 gene on chromosome 17q21. [-]
Meier-Gorlin syndrome 8		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12. [-]
Meige syndrome		A cranio-facial dystonia that is accompanied by bl..[+] A cranio-facial dystonia that is accompanied by blepharospasm. [-]
Melkersson-Rosenthal syndrome	Cheilitis granulomatosa of Mescher-Melkersson-Rose.. [+] Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal; Melkersson's syndrome; [-]	n_a
Meniere's disease	Meniere disease; Mnire's vertigo; Otogenic vertigo.. [+] Meniere disease; Mnire's vertigo; Otogenic vertigo; [-]	A vestibular disease characterized by vertigo, low..[+] A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. [-]
Menkes disease	COPPER TRANSPORT DISEASE; Menkes kinky-hair syndro.. [+] COPPER TRANSPORT DISEASE; Menkes kinky-hair syndrome; steely hair syndrome; [-]	n_a
Merkel cell carcinoma	Trabecular adenocarcinoma (morphologic abnormality.. [+] Trabecular adenocarcinoma (morphologic abnormality); trabecular carcinoma; Trabecular adenocarcinoma; [-]	n_a
Mikulicz disease	Mikulicz's disease;	n_a
Miles-Carpenter syndrome	MCS; mental retardation, X-linked, syndromic 4; me.. [+] MCS; mental retardation, X-linked, syndromic 4; mental retardation, X-linked, with congenital contractures and low fingertip arches; MRXS4; X-linked intellectual disability, Miles-Carpenter type; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. [-]
Miller Fisher syndrome	Fisher's syndrome (disorder); Miller-Fisher varian.. [+] Fisher's syndrome (disorder); Miller-Fisher variant of Guillain-Barre syndrome; [-]	A Guillain-Barre syndrome that manifests as a desc..[+] A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. [-]
Miller-Dieker lissencephaly syndrome	MDS; Miller-Dieker syndrome;	A syndrome characterized by classical lissencephal..[+] A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. [-]
Miyoshi muscular dystrophy 3	Miyoshi myopathy 3; MMD3;	A Miyoshi muscular dystrophy that has_material_bas..[+] A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. [-]
Mobitz type II atrioventricular block	Mobitz (type) II atrioventricular block; Mobitz II.. [+] Mobitz (type) II atrioventricular block; Mobitz II atrioventricular block; Mobitz type II atrioventricular block (disorder); [-]	n_a
Mobius syndrome	Moebius congenital oculofacial paralysis; Oromandi.. [+] Moebius congenital oculofacial paralysis; Oromandibular-limb hypogenesis spectrum; [-]	A facial nerve disease characterized by congenital..[+] A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). [-]
Monckeberg arteriosclerosis		n_a
Mononen-Karnes-Senac syndrome	Mononen type brachydactyly; short and abducted thu.. [+] Mononen type brachydactyly; short and abducted thumbs and great toes; [-]	A brachydactyly characterized by short, abducted t..[+] A brachydactyly characterized by short, abducted thumbs and great toes. [-]
Mooren's ulcer	Mooren ulcer;	n_a
Morgagni cataract	hypermature cataract;	n_a
Mowat-Wilson syndrome	Hirschsprung disease mental retardation syndrome; .. [+] Hirschsprung disease mental retardation syndrome; microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease; [-]	A syndrome characterized by a distinct facial phen..[+] A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It has material basis in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. [-]
Moyamoya disease	progressive intracranial arterial occlusion;	A cerebral arterial disease characterized by const..[+] A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. [-]
Muckle-Wells syndrome		n_a

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