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Results: 1 to 20 of 49

1.

Speech delay

MedGen UID:
66827
Concept ID:
C0241210
Mental or Behavioral Dysfunction
2.

autism

MedGen UID:
833591
Concept ID:
CN229531
Disease or Syndrome
3.

Adult

From 19 to 65 years of life. [from ORDO]

MedGen UID:
832807
Concept ID:
CN227396
Disease or Syndrome
4.

Delayed speech and language development

A degree of language development that is significantly below the norm for a child of a specified age. [from HPO]

MedGen UID:
504583
Concept ID:
CN000706
Finding
5.

Autism

Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). [from HPO]

MedGen UID:
504569
Concept ID:
CN000674
Finding
6.

Speech delay

MedGen UID:
472108
Concept ID:
CN130030
Disease or Syndrome
7.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
8.

Autistic disorder of childhood onset

Autism comprises a clinically heterogeneous group of disorders – collectively referred to as “autism spectrum disorders” (ASD) – that share common features of impaired social relationships, impaired language and communication, and repetitive behaviors or a narrow range of interests. For most children with autism, symptoms develop gradually, although approximately 30% have a "regressive" onset usually between ages 18 and 24 months. About 50%-70% of children with autism are identified as intellectually disabled by nonverbal IQ testing and approximately 25% develop seizures. Autism can be considered complex (i.e., presence of dysmorphic features and/or microcephaly) or essential (i.e., absence of physical abnormalities and microcephaly). About 25% of children who fit the diagnostic criteria for ASD at age two to three years subsequently begin to talk and communicate, and by age six to seven years blend to varying degrees into the regular school population. The remaining 75% have lifelong disability requiring intensive parental, school, and social support. [from GeneReviews]

MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
9.

Haploinsufficiency

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. [from MeSH]

MedGen UID:
424691
Concept ID:
C2936267
Cell or Molecular Dysfunction
10.

Dysmorphic features

MedGen UID:
473141
Concept ID:
C0432072
Congenital Abnormality
11.

Allelic Imbalance

A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified. [from MeSH]

MedGen UID:
168420
Concept ID:
C0887935
Cell or Molecular Dysfunction
12.

Diagnosis, Psychiatric

MedGen UID:
138165
Concept ID:
C0376338
Mental or Behavioral Dysfunction
13.

Neurobehavioral Manifestations

Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information. [from MeSH]

MedGen UID:
105653
Concept ID:
C0525041
Sign or Symptom
14.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
15.

Mental Disorders Diagnosed in Childhood

Those psychiatric disorders usually first diagnosed in infancy, childhood, or adolescence. These disorders can also be first diagnosed during other life stages. [from MeSH]

MedGen UID:
101230
Concept ID:
C0525040
Mental or Behavioral Dysfunction
16.

Mutagenesis Process

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
17.

Disorder of language

A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect. [from NCI]

MedGen UID:
44069
Concept ID:
C0023015
Mental or Behavioral Dysfunction
18.

Pathological Conditions, Signs and Symptoms

Abnormal anatomical or physiological conditions and objective or subjective manifestations of disease, not classified as disease or syndrome. [from MeSH]

MedGen UID:
21047
Concept ID:
C0039058
Sign or Symptom
19.

Clinical finding

clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from CRISP]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
20.

Neurologic Manifestations

Clinical signs and symptoms caused by nervous system injury or dysfunction. [from MeSH]

MedGen UID:
18017
Concept ID:
C0027854
Finding

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