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Items: 6

1.

breast cancer

MedGen UID:
880206
Concept ID:
CN235590
Finding
2.

Breast cancer

MedGen UID:
808165
Concept ID:
CN221572
Disease or Syndrome
3.

Neoplasm of the breast

A tumor (abnormal growth of tissue) of the breast. [from HPO]

MedGen UID:
506444
Concept ID:
CN116912
Finding
4.

Breast carcinoma

The presence of a carcinoma of the breast. [from HPO]

MedGen UID:
428324
Concept ID:
CN002714
Finding
5.

Neoplasm of breast

Tumors or cancer of the human BREAST. [from MeSH]

MedGen UID:
264172
Concept ID:
C1458155
Neoplastic Process
6.

Speech-language disorder 1

Speech-language disorder-1 is an autosomal dominant disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals were originally thought to have specific defects in the use of grammatical suffixation rules (Gopnik, 1990; Gopnik and Crago, 1991). The phenotype, however, is broader in nature, with virtually every aspect of grammar and language affected (Fisher et al., 1998). Vargha-Khadem et al. (1998) concluded that the disorder is characterized by abnormal development of several brain areas critical for both orofacial movements and sequential articulation, resulting in marked disruption of speech and expressive language. Relation to Specific Language Impairment Children who fail to develop expressive and/or receptive language normally, in the absence of explanatory factors such as neurologic disorders, hearing impairment, or lack of adequate opportunity, are clinically described as having specific language impairment (SLI) (Bartlett et al., 2002). SLI has a prevalence of approximately 2% (Fisher et al., 1998) to 7% (Bartlett et al., 2002) in children entering school and is associated with later difficulties in learning to read. SLI aggregates in families, and increased monozygotic versus dizygotic twin concordance rates indicate that heredity, not just shared environment, is the cause of familial clustering (summary by Bartlett et al., 2002). The majority of families segregating such disorders show complex patterns of inheritance (Fisher et al., 1998). Quantitative trait loci (QTLs) involved in specific language impairment, a phenotype that shows some overlap with SPCH1, have been mapped to chromosomes 16q (SLI1; 606711), 19q (SLI2; 606712), 13q21 (SLI3; 607134), and 7q35-q36 (SLI4; 612514). See also familial developmental dysphasia (600117). [from OMIM]

MedGen UID:
152917
Concept ID:
C0750927
Mental or Behavioral Dysfunction
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