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Items: 1 to 20 of 74

1.

Hearing impairment

A general term for the complete or partial loss of the ability to hear from one or both ears. [from MeSH]

MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
2.

Copper

A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55. [from MeSH]

MedGen UID:
40479
Concept ID:
C0009968
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
3.

Autosomal Recessive Disorder

An inherited disorder manifested only when two copies of a mutated gene are present. [from NCI]

MedGen UID:
859582
Concept ID:
C3899988
Disease or Syndrome
4.

Hearing Loss

A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. [from NCI]

MedGen UID:
854601
Concept ID:
C3887873
Finding
5.

Cataract

MedGen UID:
368085
Concept ID:
C1962983
Finding
6.

Congenital cataract

MedGen UID:
330823
Concept ID:
C1842324
7.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
8.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
5453
Concept ID:
C0018772
Finding
9.

Deficiency of ferroxidase

Aceruloplasminemia is characterized by iron accumulation in the brain and viscera. The clinical triad of retinal degeneration, diabetes mellitus (DM), and neurologic disease is seen in individuals ranging from age 25 years to older than 70 years. The neurologic findings of movement disorder (blepharospasm, grimacing, facial and neck dystonia, tremors, chorea) and ataxia (gait ataxia, dysarthria) correspond to regions of iron deposition in the brain. Individuals with aceruloplasminemia often present with anemia prior to onset of DM or obvious neurologic problems. Cognitive dysfunction including apathy and forgetfulness occurs in more than half of individuals with this condition. [from GeneReviews]

MedGen UID:
168057
Concept ID:
C0878682
Disease or Syndrome
10.

Congenital cerebellar hypoplasia

Underdevelopment of the cerebellum. [from HPO]

MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
11.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
12.

Diagnosis

Description:The source act is intended to help establish the presence of a (an adverse) situation described by the target act. This is not limited to diseases but can apply to any adverse situation or condition of medical or technical nature.  [from HL7]

MedGen UID:
8354
Concept ID:
C0011900
Finding
13.

Acetylation

Acetylation involves the covalent linkage of an acetyl group into an organic molecule. [from NCI]

MedGen UID:
7840
Concept ID:
C0001038
Molecular Function
14.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
15.

Ganglioside

A subclass of ACIDIC GLYCOSPHINGOLIPIDS. They contain one or more sialic acid (N-ACETYLNEURAMINIC ACID) residues. Using the Svennerholm system of abbrevations, gangliosides are designated G for ganglioside, plus subscript M, D, or T for mono-, di-, or trisialo, respectively, the subscript letter being followed by a subscript arabic numeral to indicated sequence of migration in thin-layer chromatograms. (From Oxford Dictionary of Biochemistry and Molecular Biology, 1997) [from MeSH]

MedGen UID:
4832
Concept ID:
C0017082
Organic Chemical; Pharmacologic Substance
16.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
892935
Concept ID:
C4020875
Pathologic Function
17.

Delay

MedGen UID:
879911
Concept ID:
CN235300
Finding
18.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
19.

Hypoplasia

Incomplete or arrested development of an organ or a part [from CHV]

MedGen UID:
537146
Concept ID:
C0243069
Pathologic Function
20.

Cerebellar hypoplasia

Underdevelopment of the cerebellum. [from HPO]

MedGen UID:
504799
Concept ID:
CN001210
Finding
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