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Results: 1 to 20 of 58

1.

Keratitis ichthyosis and deafness syndrome

MedGen UID:
777082
Concept ID:
C3665333
Disease or Syndrome
2.

Complete deafness

Total inability to hear sounds in one or both ears. [from NCI]

MedGen UID:
108418
Concept ID:
C0581883
Finding
3.

Keratitis

Inflammation of the cornea. [from NCI]

MedGen UID:
44013
Concept ID:
C0022568
Disease or Syndrome
4.

Ichthyosis

Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. [from MeSH]

MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
5.

Deafness

A general term for the complete loss of the ability to hear from both ears. [from MeSH]

MedGen UID:
4155
Concept ID:
C0011053
Finding
6.

Ichthyosis

MedGen UID:
833525
Concept ID:
CN229181
Finding
7.

Keratitis

Inflammation of the cornea. [from HPO]

MedGen UID:
504465
Concept ID:
CN000459
Finding
8.

Hearing impairment

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

MedGen UID:
446352
Concept ID:
CN000341
Finding
9.

Ichthyosis

An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. [from HPO]

MedGen UID:
429191
Concept ID:
CN007091
Finding
10.

hearing impairment

A general term for the complete or partial loss of the ability to hear from one or both ears. [from MeSH]

MedGen UID:
235586
Concept ID:
C1384666
Finding
11.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
12.

Adult

From 19 to 65 years of life. [from ORDO]

MedGen UID:
832807
Concept ID:
CN227396
Disease or Syndrome
13.

Erythrokeratoderma

MedGen UID:
609461
Concept ID:
C0432330
Disease or Syndrome
14.

Sensorineural hearing impairment

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. [from HPO]

MedGen UID:
504436
Concept ID:
CN000380
Finding
15.

Mitochondrial inheritance

The distribution of mitochondria, including the mitochondrial genome, into daughter cells after mitosis or meiosis, mediated by interactions between mitochondria and the cytoskeleton. [GOC:mcc, PMID:10873824, PMID:11389764] [from GO]

MedGen UID:
165802
Concept ID:
C0887941
16.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
17.

Congenital disease

A disease that is present at birth. [from NCI]

MedGen UID:
116572
Concept ID:
C0242354
Congenital Abnormality
18.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
19.

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
20.

Finding

The result of an examination or inquiry. [from NCI]

MedGen UID:
66215
Concept ID:
C0243095
Finding

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