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Items: 13

1.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
2.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
3.

Pain

Pain is a feeling triggered in the nervous system. Pain may be sharp or dull. It may come and go, or it may be constant. You may feel pain in one area of your body, such as your back, abdomen or chest or you may feel pain all over, such as when your muscles ache from the flu. Pain can be helpful in diagnosing a problem. Without pain, you might seriously hurt yourself without knowing it, or you might not realize you have a medical problem that needs treatment. Once you take care of the problem, pain usually goes away. However, sometimes pain goes on for weeks, months or even years. This is called chronic pain. Sometimes chronic pain is due to an ongoing cause, such as cancer or arthritis. Sometimes the cause is unknown. Fortunately, there are many ways to treat pain. Treatment varies depending on the cause of pain. Pain relievers, acupuncture and sometimes surgery are helpful.  [from MedlinePlus]

MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
4.

Pain

MedGen UID:
880950
Concept ID:
CN236637
Disease or Syndrome
5.

Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
6.

Pes planus

A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. [from HPO]

MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
7.

Talipes

A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. [from HPO]

MedGen UID:
220976
Concept ID:
C1301937
Congenital Abnormality
8.

Abnormality of the foot

An abnormality of the skeleton of foot. [from HPO]

MedGen UID:
8888
Concept ID:
C0016506
Anatomical Abnormality
9.

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
10.

Talipes calcaneovarus

A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. [from HPO]

MedGen UID:
120552
Concept ID:
C0265646
Congenital Abnormality
11.

Synostosis of joints

The abnormal fusion of neighboring bones across a joint. [from HPO]

MedGen UID:
867792
Concept ID:
C4022183
Anatomical Abnormality
12.

Aplasia of the tarsal bones

Absence of the tarsal bones. [from HPO]

MedGen UID:
866901
Concept ID:
C4021257
Anatomical Abnormality
13.

Hypoplasia of the calcaneus

Underdevelopment of the heel bone. [from HPO]

MedGen UID:
763787
Concept ID:
C3550873
Anatomical Abnormality; Finding
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