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Items: 1 to 20 of 72

1.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
2.

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present. [from GTR]

MedGen UID:
46057
Concept ID:
C0032897
Congenital Abnormality
3.

Retinoblastoma

Retinoblastoma (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb develops from cells that have cancer-predisposing variants in both copies of RB1. Rb may be unifocal or multifocal. About 60% of affected individuals have unilateral Rb with a mean age of diagnosis of 24 months; about 40% have bilateral Rb with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for Rb. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. [from GTR]

MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
4.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
5.

Diagnosis

The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. [from MeSH]

MedGen UID:
8354
Concept ID:
C0011900
Finding
6.

Cerebral palsy

A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain. [from NCI]

MedGen UID:
854
Concept ID:
C0007789
Disease or Syndrome
7.

Palsy

Muscle weakness or paralysis of neurologic origin. [from NCI]

MedGen UID:
854494
Concept ID:
C3887651
Finding
8.

Psychiatric

MedGen UID:
851585
Concept ID:
C1548428
Finding
9.

Autosomal dominant spastic paraplegia type 17

MedGen UID:
797837
Concept ID:
CN197397
Disease or Syndrome
10.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
11.

Retinoblastoma

A tumor of the eye originating from cells of the retina. [from HPO]

MedGen UID:
506340
Concept ID:
CN008757
Finding
12.

Spastic paraplegia 17

The spectrum of BSCL2-related neurologic disorders includes Silver syndrome and variants of Charcot-Marie-Tooth disease type 2, distal hereditary motor neuropathy (dHMN) type V, and spastic paraplegia 17. Features of these disorders include onset of symptoms ranging from the first to the seventh decade, slow disease progression, upper motor neuron involvement (gait disturbance with pyramidal signs ranging from mild to severe spasticity with hyperreflexia in the lower limbs and variable extensor plantar responses), lower motor neuron involvement (amyotrophy of the peroneal muscles and small muscles of the hand), abnormal vibration sense, and pes cavus and other foot deformities. Disease severity is variable among and within families. [from GTR]

MedGen UID:
442302
Concept ID:
CN074197
Disease or Syndrome
13.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
14.

Intellectual 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:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
15.

Nutritional disorder

Any condition related to a disturbance between proper intake and utilization of nourishment. [from NCI]

MedGen UID:
811347
Concept ID:
C3714509
Disease or Syndrome
16.

Male Urogenital Diseases

Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE). [from MeSH]

MedGen UID:
318601
Concept ID:
C1720894
Disease or Syndrome
17.

Female Urogenital Diseases

Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). [from MeSH]

MedGen UID:
318599
Concept ID:
C1720887
Disease or Syndrome
18.

Female Urogenital Diseases and Pregnancy Complications

Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. [from MeSH]

MedGen UID:
318565
Concept ID:
C1720765
Disease or Syndrome
19.

Epithelial Neoplasm

A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. [from NCI]

MedGen UID:
277963
Concept ID:
C1368683
Neoplastic Process
20.

Disorder of hyperalimentation

An imbalanced NUTRITIONAL STATUS resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as OBESITY. [from MeSH]

MedGen UID:
219760
Concept ID:
C1257763
Disease or Syndrome
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