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Items: 4

1.

Cranioosteoarthropathy

MedGen UID:
394824
Concept ID:
C2678439
Disease or Syndrome
2.

Avellino corneal dystrophy

A number sign (#) is used with this entry because the Avellino type of corneal dystrophy (CDA) is caused by mutation in the gene encoding keratoepithelin (TGFBI; 601692). Several other forms of autosomal dominant corneal dystrophy are caused by mutation in this gene, which maps to chromosome 5q31. [from OMIM]

MedGen UID:
220900
Concept ID:
C1275685
Disease or Syndrome
3.

Alzheimer disease familial

MedGen UID:
82914
Concept ID:
C0276496
Disease or Syndrome
4.

CHARGE association

CHARGE is a mnemonic for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. CHARGE syndrome is characterized by the following: Unilateral or bilateral coloboma of the iris, retina-choroid, and/or disc with or without microphthalmos (80%-90% of individuals). Unilateral or bilateral choanal atresia or stenosis (50%-60%). Cranial nerve dysfunction resulting in hyposmia or anosmia, unilateral or bilateral facial palsy (40%), impaired hearing, and/or swallowing problems (70%-90%). Abnormal outer ears, ossicular malformations, Mondini defect of the cochlea and absent or hypoplastic semicircular canals (>90%). Cryptorchidism in males and hypogonadotropic hypogonadism in both males and females. Developmental delay. Cardiovascular malformations (75%-85%). Growth deficiency (70%-80%). Orofacial clefts (15%-20%). Tracheoesophageal fistula (15%-20%). Neonates with CHARGE syndrome often have multiple life-threatening medical conditions. Feeding difficulties are a major cause of morbidity in all age groups. [from GeneReviews]

MedGen UID:
75567
Concept ID:
C0265354
Congenital Abnormality; Disease or Syndrome
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