A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
sensory system disease
A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
Epstein-Barr virus hepatitis
A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.
primary bacterial infectious disease
A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
opportunistic bacterial infectious disease
A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
OMIM mapping confirmed by DO. [SN].
xeroderma pigmentosum
A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
MEN2A
Sipple syndrome
multiple endocrine neoplasia II
multiple endocrine neoplasia type 2A
A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
Xref MGI. OMIM mapping confirmed by DO. [SN].
lissencephaly
A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.
4p deletion syndrome
PITT SYNDROME
Pitt-Rogers-Danks Syndrome
chromosome 4p16.3 deletion syndrome
OMIM mapping confirmed by DO. [LS].
Wolf-Hirschhorn syndrome
A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.
Erythrokeratodermia Figurata Variabilis
Greither Disease
erythrokeratodermia variabilis
A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
3-methylglutaconicaciduria type 2
3-methylglutaconicaciduria type II
MGA Type 2
MGA type II
Barth syndrome
A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM
MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE
SMA II
SMA2
spinal muscular atrophy 2
spinal muscular atrophy type II
intermediate spinal muscular atrophy
A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22.
THYROID CARCINOMA, FAMILIAL MEDULLARY
familial medullary thyroid carcinoma
A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
familial dysautonomia, type II
hereditary sensory and autonomic neuropathy
hereditary sensory neuropathy
A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.
HARD syndrome
cerebroocular dysplasia-muscular dystrophy syndrome
Walker-Warburg syndrome
A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.
congenital disorder of glycosylation type II
An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
D-2-hydroxyglutaric aciduria
A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.
congenital generalized lipodystrophy
An intestinal disease characterized by inflammation located in all parts of digestive tract.
inflammatory bowel disease
An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
ATTR amyloidosis
ATTRm amyloidosis
Amyloidosis, hereditary, transthyretin-related
Corino de Andrade's disease
Familial transthyretin amyloidosis
TTR amyloidosis
familial amyloid polyneuropathy
paramyloidosis
transthyretin amyloidosis
transthyretin-related hereditary amyloidosis
hereditary systemic amyloidosis 1
A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11.
Birt-Hogg-Dube syndrome
A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
Cardiomyopathies
MESH:D009202 added from NeuroDevNet [WAK].
cardiomyopathy
A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.
alcoholism
alcohol dependence
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20.
ALS8
amyotrophic lateral sclerosis 8
amyotrophic lateral sclerosis type 8
A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
Arthrogryposis-renal dysfunction-cholestasis
ARC syndrome
A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
non-specific X-linked mental retardation
Xref MGI.
non-syndromic X-linked intellectual disability
A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
Salonen-Herva-Norio syndrome
hydrolethalus syndrome
A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.
juvenile polyposis syndrome
A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.
FENIB
familial encephalopathy with neuroserpin inclusion bodies
A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
CHARGE association
CHARGE syndrome
A dystonia that affects most or all of the body.
familial dystonia
fragments of torsion dystonia
Dystonia 12
MESH:C538001 added from NeuroDevNet [WAK].
generalized dystonia
A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.
FXTAS syndrome
fragile X-associated tremor/ataxia syndrome
A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
17q21.31 microdeletion syndrome
KANSL1-related intellectual disability syndrome
KdVS
Koolen-De Vries syndrome
Koolen de Vries syndrome
A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein.
IBMPFD
inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene.
spinocerebellar ataxia 5
A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.
infantile cerebellar-retinal degeneration
A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
Triose phosphate-isomerase deficiency
triosephosphate isomerase deficiency
A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene.
intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
IMAGe syndrome
A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
SPG20
autosomal recessive spastic paraplegia 20
autosomal recessive spastic paraplegia Troyer type
autosomal recessive spastic paraplegia type 20
childhood-onset spastic paraparesis with distal muscle wasting
hereditary spastic paraplegia 20
spastic paraplegia 20
spastic paraplegia type 20
Troyer syndrome
A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
Townes-Brocks syndrome
An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
syndromic intellectual disability
A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
Synucleinopathies
alpha Synucleinopathies
synucleinopathy
A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
autism spectrum disorder
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood.
autoimmune disease of blood
A benign neoplasm that is classified by the organ system from which it is arising from.
organ system benign neoplasm
A brain cancer that has_material_basis_in glial cells.
lower grade glioma
brain glioma
A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene.
spinal muscular atrophies of childhood
survival motor neuron spinal muscular atrophy
childhood spinal muscular atrophy
A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.
Kennedy disease
SBMA
Spinobulbar Muscular Atrophy
X-Linked Bulbo-Spinal Atrophy
X-linked Spinal and Bulbar Muscular Atrophy
spinal bulbar muscular atrophy
Kennedy's disease
An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
DRPLA
Haw River Syndrome
Naito-Oyanagi disease
dentatorubral-pallidoluysian atrophy
An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
GEFS+
generalized epilepsy with febrile seizures plus
A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
familial hemiplegic migraine
An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
Golabi-Ito-Hall syndrome
Sutherland-Haan X-linked mental retardation syndrome
X-linked intellectual disability due to PQBP1 mutations
X-linked intellectual disability, Renpenning type
X-linked mental retardation Renpenning type
X-linked mental retardation with spastic diplegia
syndromic X-linked mental retardation 8
Renpenning syndrome
A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
classic xanthinuria
hereditary xanthinuria
xanthine dehydrogenase deficiency
xanthine oxidase deficiency
NT MGI.
xanthinuria
A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
Flybase.
CEDNIK syndrome
A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.
MC3DN2
mitochondrial complex III deficiency nuclear type 2
A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
9q subtelomeric deletion syndrome
9q-syndrome
9q34 deletion syndrome
Kleefstra syndrome 1
An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21.
glycerol kinase deficiency
A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
Pitt-Hopkins syndrome
A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.
autosomal recessive limb-girdle muscular dystrophy type 2R
desminopathy
myofibrillar myopathy 1
A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
DEE6
DEE6A
developmental and epileptic encephalopathy 6
developmental and epileptic encephalopathy 6A
early infantile epileptic encephalopathy 6
severe myoclonic epilepsy of infancy
Dravet syndrome
A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone.
Kleefstra syndrome
A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.
Batten disease
CLN3
juvenile neuronal ceroid lipofuscinosis
neuronal ceroid lipofuscinosis 3
An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.
High Frequency Hearing Loss
High frequency deafness
Perceptive deafness
Perceptive hearing loss
Perceptive hearing loss or deafness
Sensorineural Deafness
Sensory hearing loss
central hearing loss
high-frequency hearing loss
sensorineural hearing loss
A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
MEN type IIB
MEN2B
Multiple endocrine neoplasia, type 3
Wagenmann-Froboese syndrome
mucosal neuroma syndrome
multiple endocrine neoplasia type 2B
A male reproductive organ cancer that is located_in the prostate.
NGP - new growth of prostate
hereditary prostate cancer
malignant tumor of the prostate
prostate cancer, familial
prostate neoplasm
prostatic cancer
prostatic neoplasm
tumor of the prostate
prostate cancer
A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
bacterial infectious disease
A gastrointestinal system cancer that is located_in the stomach.
gastric cancer
gastric neoplasm
stomach cancer
A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
pericentral pigmentary retinopathy
Xref MGI. OMIM mapping confirmed by DO. [LS].
retinitis pigmentosa
A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
mental retardation
OMIM mapping submitted by NeuroDevNet. [LS].
intellectual disability
A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
CMT - Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease
A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
Microcephalus
microencephaly
microcephaly
A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.
Amnestic syndrome
Korsakoff's psychosis or syndrome
amnesia
amnestic disorder
A cardiovascular system disease that involves the heart.
heart disease
A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.
diabetes mellitus syndrome in newborn infant
neonatal diabetes
neonatal diabetes mellitus
Muscular dystrophy, oculopharyngeal
oculopharyngeal muscular dystrophy
A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
Dystrophia myotonica
Steinert disease
congenital myotonic dystrophy
myotonic dystrophy of Steinert
myotonic dystrophy type 1
A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
Muscular dystrophy, Duchenne
Duchenne muscular dystrophy
Landouzy Dejerine muscular dystrophy
Landouzy-Dejerine muscular dystrophy
Muscular dystrophy, Landouzy-Dejerine
facioscapulohumeral muscular dystrophy
A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
spinal muscular atrophy
An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.
Boder-Sedgwick syndrome
Louis Bar syndrome
ataxia telangiectasia
Friedreich's ataxia
Friedreich's tabes
Friedreich ataxia
A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
Huntington disease
Huntington's chorea
Huntington's disease
A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
degenerative disease
neurodegenerative disease
An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
primary dilated cardiomyopathy
Congestive cardiomyopathy
Familial dilated cardiomyopathy
Idiopathic dilation cardiomyopathy
dilated cardiomyopathy
A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
BT - Brain tumour
adult brain tumor
adult malignant brain neoplasm
brain neoplasm
brain neoplasm, adult
malignant brain tumour
malignant primary brain neoplasm
malignant primary brain tumor
malignant tumor of Brain
malignant tumor of adult brain
neoplasm of brain
primary brain neoplasm
primary brain tumor
primary malignant neoplasm of brain
tumor of the Brain
brain cancer
A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
AAT deficiency
alpha 1-antitrypsin deficiency
A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.
Stone Man Syndrome
myositis ossificans progressiva
progressive myositis ossificans
progressive ossifying myositis
fibrodysplasia ossificans progressiva
A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
Bourneville's disease
Epiloia
Tuberose sclerosis
Tuberous sclerosis complex
Tuberous sclerosis syndrome
cerebral sclerosis
tuberous sclerosis
A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
Fanconi anaemia
Fanconi pancytopenia
Fanconi panmyelopathy
Fanconi's anaemia
Fanconi's anemia
Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
Fanconi anemia
A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.
polyneuropathy
Hippel Lindau syndrome
von Hippel-Lindau syndrome
von Hippel-Lindau disease
A male infertility disease characterized by the absence of any measurable level of sperm in semen.
azoospermia
A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
Complete trisomy 21 syndrome
Down's syndrome
Down's syndrome - trisomy 21
Downs syndrome
G Trisomy
trisomy 21 syndrome
Down syndrome
A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
FRAGILE X MENTAL RETARDATION SYNDROME
MARKER X SYNDROME
MARTIN-BELL SYNDROME
fragile X syndrome
An eye disease characterized by a lack or loss of vision.
vision impairment
vision loss
visual impairment
blindness
A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Parkinson disease
paralysis agitans
Parkinson's disease
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.
Azorean disease
MJD
SCA3
spinocerebellar ataxia 3
spinocerebellar ataxia type 3
Machado-Joseph disease
A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
spinocerebellar ataxia
autosomal dominant cerebellar ataxia
hereditary ceroid lipofuscinosis
Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].
neuronal ceroid lipofuscinosis
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
Sphingomyelinase Deficiency Disease
lipoid histiocytosis
sphingomyelin lipidosis
Niemann-Pick disease
A disease that is characterized by abnormally rapid cell division.
cell process disease
neoplasm
disease of cellular proliferation
A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.
Branchio-Oto-renal syndrome
Branchio-otorenal dysplasia
Melnick-Fraser syndrome
branchiootorenal dysplasia
branchiootorenal syndrome
A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
myotubular myopathy
centronuclear myopathy
A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
Dejerine-Thomas syndrome
Thomas' syndrome
WADIA-SWAMI SYNDROME
olivopontocerebellar atrophy
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
LCA
Leber's amaurosis
Leber's congenital amaurosis
Leber's disease
Leber congenital amaurosis
A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock.
Cholera - Vibrio cholerae
Cholera due to Vibrio cholerae
Vibrio cholerae
cholera
A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
Ethanol abuse
alcohol abuse
alcohol use disorder
A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
malignant neoplasm
malignant tumor
primary cancer
Updating out dated UMLS CUI.
cancer
A physical disorder that is characterized by problems with the heart's structure that are present at birth.
Congenital Heart Defects
Congenital anomaly of heart
Heart Malformation
congenital heart defect
heart defect
Heart-congenital defect
congenital heart disease
An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.
glaucoma
A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
epilepsy syndrome
epileptic syndrome
epilepsy
COPPER TRANSPORT DISEASE
Menkes kinky-hair syndrome
steely hair syndrome
Menkes disease
A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.
neonatal intrahepatic cholestasis
intrahepatic cholestasis
A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Gaucher disease
acid beta-glucosidase deficiency
glocucerebrosidase deficiency
glucosylceramide beta-glucosidase deficiency
kerasin thesaurismosis
Gaucher's disease
A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.
Fanconi Schlesinger syndrome
WBS
Williams-Beuren syndrome
A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
happy puppet syndrome
puppetlike syndrome
Angelman syndrome
A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.
infantile cerebral palsy
cerebral palsy
A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.
AT/RT
ATRT
Atypical teratoid/rhabdoid tumor
Atypical teratoid/rhabdoid tumour
Rhabdoid tumor of the CNS
Rhabdoid tumour of the CNS
atypical teratoid rhabdoid tumour
atypical teratoid rhabdoid tumor
A neurodegenerative disease that is located_in the motor neurons.
motor neuron disease
A female reproductive organ cancer that is located_in the ovary.
malignant Ovarian tumor
malignant tumour of ovary
ovarian neoplasm
ovary neoplasm
primary ovarian cancer
tumor of the Ovary
ovarian cancer
A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
French settlement disease
Strumpell-Lorrain disease
familial spastic paraplegia
hereditary spastic paraparesis
hereditary spastic paraplegia
An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
Hematologic malignancy
Hematologic neoplasm
Hematological tumors
blood cancer
hematopoietic and lymphoid system tumor
hematopoietic cancer
hematopoietic neoplasm
hematopoietic tumors
malignant hematopoietic neoplasm
hematologic cancer
A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
Bloom-Torre-Machacek syndrome
Congenital Telangiectatic Erythema syndrome
Bloom syndrome
A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
ear and mastoid disease
auditory system disease
An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).
LQT
long Q-T syndrome
Romano-Ward syndrome
long QT syndrome
A disease of anatomical entity that is located_in the immune system.
immune system disease
A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.
CHS
Chediak - Steinbrinck anomaly
Chediak-Higashi syndrome
A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.
IBIDS syndrome
TTD-P
Tay syndrome
sulfur-deficient brittle hair syndrome
trichothiodystrophy with congenital ichthyosis
photosensitive trichothiodystrophy
A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
Neill-Dingwall syndrome
Cockayne's syndrome
Cockayne syndrome
An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
disorder of carbohydrate transport and metabolism
inborn carbohydrate metabolism disorder
inborn errors of carbohydrate metabolism
carbohydrate metabolic disorder
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
epithelial cancer
epithelioma
malignant Epithelioma
carcinoma
An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
GI tumor
digestive system cancer
gastrointestinal tract cancer
gastrointestinal system cancer
An inherited metabolic disorder that involves the creation and degradation of lipids.
dyslipidemia
fatty acid metabolism disorder
lipid metabolism disorder
A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.
Nemaline body disease
nemaline rod myopathy
rod body disease
rod myopathy
nemaline myopathy
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
disorder of lysosomal enzyme
inborn lysosomal enzyme disorder
lysosomal storage metabolism disorder
lysosomal storage disease
A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
ALS
Lou Gehrig's disease
motor neuron disease, bulbar
amyotrophic lateral sclerosis
A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
Mucolipidosis type I
sialidosis
glycoproteinosis
A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
inclusion body myositis
A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
Turner's phenotype, karyotype normal
Noonan syndrome
A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.
Lafora Progressive Myoclonic Epilepsy
Lafora's disease
MYOCLONIC EPILEPSY OF LAFORA
progressive myoclonic epilepsy 2
Lafora disease
A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
Infantile necrotizing encephalomyelopathy
Leigh syndrome
juvenile subacute necrotizing encephalomyelopathy
subacute necrotizing encephalomyelopathy
Leigh disease
A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
Hermansky-Pudlak syndrome
A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.
MITOCHONDRIAL COMPLEX IV DEFICIENCY
cytochrome-c oxidase deficiency disease
A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.
Coffin-Lowry syndrome
A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.
HGPS
Hutchinson Gilford syndrome
Hutchinson-Gilford Progeria syndrome
Hutchinson-Gilford disease
progeria
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
Hallervorden-Spatz disease
Hallervorden-Spatz syndrome
NBIA1
Pigmentary pallidal degeneration
brain Iron Accumulation type I syndrome
neurodegeneration with brain iron accumulation 1
pantothenate kinase-associated neurodegeneration
alveolar childhood rhabdomyosarcoma
alveolar rhabdomyosarcoma
A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.
congenital structural myopathy
A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
myopathy
A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
Gerstmann-Straussler-Scheinker disease
PRION DEMENTIA
Gerstmann-Straussler-Scheinker syndrome
A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.
Alexander's disease
Alexander disease
A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.
Macular degeneration of retina
macular degeneration
pseudohypoaldosteronism
A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
myotonic disease
Classic apraxia
Ideomotor dyspraxia
Limb-kinetic apraxia
Transcortical apraxia
ideomotor apraxia
A disease of mental health that involves disruption of sleep patterns.
Non-organic sleep disorder
sleep disorder
A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
schizophrenia-1
schizophrenia
A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.
dystonic disease
dystonia
A urinary system disease that is located_in the kidney.
impaired renal function disease
nephropathy
kidney disease
An eye and adnexa disease that is located_in the eye.
eye disease
A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8.
Werner's syndrome
adult premature ageing syndrome
adult progeria
Werner syndrome
An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.
atrophy of optic disc
optic atrophy
An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
hypoimmunity
immune deficiency disorder
immunodeficiency syndrome
primary immunodeficiency disease
A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.
Prion disease pathway
Prion protein disease
Spongiform Encephalopathy
prion induced disorder
transmissible spongiform encephalopathy
prion disease
A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.
tauopathy
A myopathy that is characterized by mitochondrial dysfunction.
mitochondrial cytopathy
mitochondrial myopathy
An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
mitochondrial metabolism disease
A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.
degeneration of retina
retinal degeneration
A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.
collagen disorder
collagen disease
A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.
Filatov's disease
Gammaherpesviral mononucleosis
Monocytic angina
Pfeiffer's disease
glandular fever
mononucleosis
infectious mononucleosis
This disease may be obsoleted in the future. Diseases previously classified as neurofibromatosis 2 (DOID:0111252) and neurofibromatosis 3 (DOID:0070480 and DOID:0070481) have been reclassified by international consensus as subclasses of schwannomatosis. For details refer to definition sources for neurofibromatosis 1 (DOID:0111253).
neurofibromatosis
mitochondrial encephalomyopathy
A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information.
Academic skill disorder
learning disorder
learning disability
A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
cerebrohepatorenal syndrome
congenital iron overload
OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN].
Zellweger syndrome
An inherited metabolic disorder that involves peroxisome malfunction.
peroxisomal disorder
peroxisomal disease
A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
AML - acute Myeloid Leukemia
Leukemia, Myelocytic, acute
acute myeloblastic leukaemia
acute myeloblastic leukemia
acute myelogenous leukaemia
acute myelogenous leukemia
acute myeloid leukaemia
acute myeloid leukemia
A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.
amyloid disease
amyloidosis has both inherited and acquired subtypes [LS].
amyloidosis
A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
Wilhemsen-Lynch disease
frontotemporal lobar degeneration
multiple system tauopathy with presenile dementia
pallidopontonigral degeneration
frontotemporal dementia
A large intestine cancer that is located_in the colon and/or located_in the rectum.
colorectal cancer
A disease by infectious agent that results in infection, has_material_basis_in Viruses.
Viral Infection
Viral disease
virus infection
viral infectious disease
A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
NIDDM
insulin resistance
non-insulin-dependent diabetes mellitus
type 2 diabetes
type II diabetes mellitus
type 2 diabetes mellitus
A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.
Fatty change of liver
SLD
Steatosis of liver
alcoholic fatty liver
fatty liver disease
hepatic lipidosis
hepatic steatosis
cryptogenic steatotic liver disease
PRISM.
steatotic liver disease
A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.
ciliary motility disorder
immotile ciliary syndrome
primary ciliary dyskinesia
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
Galactosaemia
Galactose intolerance
OMIM mapping by NeuroDevNet. [LS].
galactosemia
A myopathy is characterized by progressive skeletal muscle weakness degeneration.
muscular dystrophy
An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.
obesity