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Items: 1 to 20 of 33

1.

Desmosterolosis

Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by Waterham et al., 2001). [from GTR]

MedGen UID:
400801
Concept ID:
C1865596
Disease or Syndrome
2.

enzyme activity

Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. [ISBN:0198506732] [from GO]

MedGen UID:
66218
Concept ID:
C0243102
Molecular Function
3.

Hydrocephalus

Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28. [from GTR]

MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
4.

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
5.

Arthrogryposis multiplex congenita

A non-progressive finding characterized by multiple joint contractures found throughout the body at birth. [from HPO]

MedGen UID:
2455
Concept ID:
C0003886
Disease or Syndrome; Finding
6.

Increased head circumference

MedGen UID:
909477
Concept ID:
C4083076
Finding
7.

dysmorphic

MedGen UID:
893259
Concept ID:
CN238735
Finding
8.

Facial features

MedGen UID:
880870
Concept ID:
CN236432
Finding
9.

Macrocephaly

MedGen UID:
851886
Concept ID:
CN233365
Finding
10.

Macrocephaly

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014). [from GTR]

MedGen UID:
745757
Concept ID:
C2243051
Disease or Syndrome; Finding
11.

Arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures, with a worldwide incidence of 1 in 3,000 live births. AMC can occur in the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). There is also a distal form of arthrogryposis multiplex congenita (see DA1A, 108120) and a lethal congenital form (see LCCS1, 253310). [from GTR]

MedGen UID:
419371
Concept ID:
C2931264
12.

Hydrocephalus

MedGen UID:
369747
Concept ID:
C1963137
Pathologic Function
13.

Relative macrocephaly

A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. [from HPO]

MedGen UID:
338607
Concept ID:
C1849075
Congenital Abnormality; Finding
14.

Mild

Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
268697
Concept ID:
C1513302
Finding
15.

Rare Disorder

A disease that affects fewer than 200,000 people in the United States. [from NCI]

MedGen UID:
146261
Concept ID:
C0678236
Disease or Syndrome
16.

Hypoplasia of the corpus callosum

Underdevelopment of the corpus callosum. [from HPO]

MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
17.

Abnormal facial shape

An abnormal morphology (form) of the face or its components. [from HPO]

MedGen UID:
98409
Concept ID:
C0424503
Finding
18.

Abnormal facial shape

An abnormal morphology (form) of the face or its components. [from HPO]

MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
19.

Alzheimer disease familial

MedGen UID:
82914
Concept ID:
C0276496
Disease or Syndrome
20.

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 GTR]

MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
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