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Items: 9

1.

Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth

A syndrome of delayed development, blepharophimosis, blepharoptosis, dental hypoplasia, deafness, heart defect, cryptorchidism and scrotal hypoplasia in males, and other abnormalities. [from MCA/MR]

MedGen UID:
162905
Concept ID:
C0796094
Disease or Syndrome
2.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Quantitative Concept
3.

Hypertrichosis congenital generalized X-linked

A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. [from HPO]

MedGen UID:
341002
Concept ID:
C1855900
Disease or Syndrome
4.

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
5.

Multiple congenital anomalies

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

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
6.

Congenital anomaly of eye

Congenital absence of or defects in structures of the eye; may also be hereditary. [from MeSH]

MedGen UID:
4623
Concept ID:
C0015393
Congenital Abnormality; Disease or Syndrome
7.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
8.

Developmental disorder

Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disorders. Or the problem can be both physical and mental, such as Down syndrome. The problems are usually life-long, and can affect everyday living. . There are many causes of developmental disabilities, including. -Genetic or chromosome abnormalities. These cause conditions such as Down syndrome and Rett syndrome. -Prenatal exposure to substances. Drinking alcohol when pregnant can cause fetal alcohol spectrum disorders. -Certain viral infections during pregnancy. -Preterm birth. Often there is no cure, but treatment can help the symptoms. Treatments include physical, speech, and occupational therapy. Special education classes and psychological counseling can also help. NIH: National Institute of Child Health and Human Development.  [from MedlinePlus]

MedGen UID:
3367
Concept ID:
C0008073
Mental or Behavioral Dysfunction
9.

Blepharophimosis

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. [from HPO]

MedGen UID:
2670
Concept ID:
C0005744
Congenital Abnormality; Disease or Syndrome
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