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Items: 17

1.

Learning difficulties

MedGen UID:
98414
Concept ID:
C0424939
Finding
2.

5p partial monosomy syndrome

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents. [from OMIM]

MedGen UID:
41345
Concept ID:
C0010314
Congenital Abnormality; Disease or Syndrome
3.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
4.

Dysmorphism

MedGen UID:
832917
Concept ID:
CN228290
Finding
5.

Abnormal facial shape

An abnormal morphology (form) of the face or its components. [from HPO]

MedGen UID:
505048
Concept ID:
CN001810
Finding
6.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
7.

facial dysmorphism

MedGen UID:
120588
Concept ID:
C0266617
Congenital Abnormality
8.

Headache associated with sexual activity

The International Headache Society (1988) classifies headache associated with sexual activity (HSA) as an idiopathic headache under 'miscellaneous headaches unassociated with structural lesions.' Based on initial descriptions, 3 subtypes are differentiated: type 1 is a dull ache in the head and neck that slowly intensifies as sexual excitement increases, and is believed to be caused by muscle contraction similar to tension-type headache; type 2, also called 'vascular-type,' is a sudden severe, explosive headache occurring at orgasm, which may be due to increased intracranial pressure; type 3, the most uncommon type, is a postural headache resembling that caused by decreased CSF pressure, perhaps due to a meningeal tear during coitus (summary by Frese et al., 2003). [from OMIM]

MedGen UID:
95989
Concept ID:
C0393754
Sign or Symptom
9.

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
10.

Intellectual disability, profound

Profound mental retardation is defined as an intelligence quotient (IQ) below 20. [from HPO]

MedGen UID:
43816
Concept ID:
C0020796
Finding; Mental or Behavioral Dysfunction
11.

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
12.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
13.

Congenital chromosomal disease

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) [from MeSH]

MedGen UID:
3441
Concept ID:
C0008626
Congenital Abnormality; Disease or Syndrome
14.

Mental retardation, autosomal recessive 35

MedGen UID:
767523
Concept ID:
C3554609
Disease or Syndrome
15.

Chromosome 5, trisomy 5p

MedGen UID:
419839
Concept ID:
C2931575
Cell or Molecular Dysfunction
16.

Riddle syndrome

MedGen UID:
394368
Concept ID:
C2677792
Disease or Syndrome
17.

Leg, absence deformity of, with congenital cataract

MedGen UID:
343374
Concept ID:
C1855523
Disease or Syndrome
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