Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 28

1.

Biotinidase deficiency

If untreated, young children with profound biotinidase deficiency usually exhibit neurologic abnormalities including seizures, hypotonia, ataxia, developmental delay, vision problems, hearing loss, and cutaneous abnormalities (e.g., alopecia, skin rash, candidiasis). Older children and adolescents with profound biotinidase deficiency often exhibit motor limb weakness, spastic paresis, and decreased visual acuity. Once vision problems, hearing loss, and developmental delay occur, they are usually irreversible, even with biotin therapy. Individuals with partial biotinidase deficiency may have hypotonia, skin rash, and hair loss, particularly during times of stress. [from GeneReviews]

MedGen UID:
66323
Concept ID:
C0220754
Congenital Abnormality; Disease or Syndrome
2.

Atrophy

Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [from MeSH]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
3.

Optic atrophy

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. [from HPO]

MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
4.

symptomatic

MedGen UID:
880232
Concept ID:
CN235625
Finding
5.

Delay

MedGen UID:
879911
Concept ID:
CN235300
Finding
6.

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:
504774
Concept ID:
CN001157
Finding
7.

Optic atrophy

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. [from HPO]

MedGen UID:
504537
Concept ID:
CN000609
Finding
8.

Visual loss

Loss of visual acuity (implying that vision was better at a certain timepoint in life - otherwise the term reduced visual acuity should be used (or a subclass of that). [from HPO]

MedGen UID:
504502
Concept ID:
CN000537
Finding
9.

Hearing impairment

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

MedGen UID:
446352
Concept ID:
CN000341
Finding
10.

Peroxisome biogenesis disorders, Zellweger syndrome spectrum

Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS) is a continuum of three phenotypes — Zellweger syndrome (ZS), the most severe; neonatal adrenoleukodystrophy (NALD); and infantile Refsum disease (IRD), the least severe — that were originally described before the biochemical and molecular bases of these disorders had been fully determined. Individuals with PBD, ZSS usually come to clinical attention in the newborn period or later in childhood. In the newborn period, affected children are hypotonic, feed poorly, and have distinctive facies, seizures, and liver cysts with hepatic dysfunction. Bony stippling (chondrodysplasia punctata) of the patella(e) and other long bones may occur. Infants with ZS are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Older children have retinal dystrophy, sensorineural hearing loss, developmental delay with hypotonia, and liver dysfunction. The clinical courses of NALD and IRD are variable and may include developmental delays, hearing loss, vision impairment, liver dysfunction, episodes of hemorrhage, and intracranial bleeding. While some children can be very hypotonic, others learn to walk and talk. The condition is often slowly progressive. [from GeneReviews]

MedGen UID:
330407
Concept ID:
C1832200
Disease or Syndrome
11.

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:
107838
Concept ID:
C0557874
Finding; Finding
12.

Developmental delay

Failure to meet, or late achievement of developmental milestones. [from NCI]

MedGen UID:
98410
Concept ID:
C0424605
Mental or Behavioral Dysfunction
13.

Asymptomatic

The finding of no indications of a particular disease or injury. [from NCI]

MedGen UID:
65413
Concept ID:
C0231221
Finding
14.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
15.

Hearing problem

Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways. [from MeSH]

MedGen UID:
82636
Concept ID:
C0260662
Disease or Syndrome
16.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
17.

Mental disorder

Mental disorders include a wide range of problems, including. -Anxiety disorders, including panic disorder, obsessive-compulsive disorder, post-traumatic stress disorder, and phobias. -Bipolar disorder. -Depression. -Mood disorders. -Personality disorders. -Psychotic disorders, including schizophrenia. There are many causes of mental disorders. Your genes and family history may play a role. Your life experiences, such as stress or a history of abuse, may also matter. Biological factors can also be part of the cause. A traumatic brain injury can lead to a mental disorder. A mother's exposure to viruses or toxic chemicals while pregnant may play a part. Other factors may increase your risk, such as use of illegal drugs or having a serious medical condition like cancer. Medications and counseling can help many mental disorders. .  [from MedlinePlus]

MedGen UID:
14047
Concept ID:
C0004936
Mental or Behavioral Dysfunction
18.

Neurological speech impairment

A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders. [from NCI]

MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
19.

Multiple Carboxylase Deficiency

A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY. [from MeSH]

MedGen UID:
10119
Concept ID:
C0026755
Disease or Syndrome
20.

Disorder of amino acid metabolism

Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. [from MeSH]

MedGen UID:
1867
Concept ID:
C0002514
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...