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  • Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the
  • Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation
  • Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of
  • Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with
  • Otopalatodigital syndrome type 2 is a disorder involving abnormalities in skeletal development and
  • Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic
  • Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with
  • severity of symptoms typically depends on how many and which types of cells contain the ring chromosome 2
  • Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a
  • More than 1,000 NF1 mutations that cause neurofibromatosis type 1 have been identified. Most of
  • schwannomatosis that is similar to neurofibromatosis type 2. This condition is characterized by the development
  • Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in
  • types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria
  • Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of
  • symptoms of Legius syndrome also occur in a similar disorder called neurofibromatosis type 1. It can be
  • Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal disorder) together affect 1 in
  • 2-methylbutyryl-CoA dehydrogenase deficiency is a type of organic acid disorder in which the body
  • The PTPN11 gene provides instructions for making a protein called SHP-2. This protein helps
  • Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells
  • Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects
  • Researchers have identified more than 30 D2HGDH gene mutations that cause a type of 2
  • brachydactyly type B1. This condition is characterized by abnormally short fingers and toes, particularly the
  • Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break
  • Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to
  • At least two mutations in the IDH2 gene have been found to cause a type of 2-hydroxyglutaric
  • Researchers have identified more than 70 mutations in the L2HGDH gene that cause a type of 2
  • type, one form of a condition that has features of both of the two previously described conditions
  • The prevalence of spastic paraplegia type 4 is estimated to be 2 to 6 in 100,000 people worldwide.
  • Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic
  • reasons, during the past 20 years the worldwide incidence of type 1 diabetes has been increasing by 2 to 5
  • also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles
  • Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic
  • Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with
  • 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency is a disorder that affects many parts
  • The ADAMTS2 gene provides instructions for making an enzyme that processes several types of
  • called the kyphoscoliosis type. Ehlers-Danlos syndrome is a group of disorders that affect the connective
  • toxic compounds.type of fatty
  • Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects
  • will also develop characteristic features of a condition known as neurofibromatosis, including
  • Hereditary sensory neuropathy type IA is a rare condition; its prevalence is estimated to be 1 to 2
  • Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a
  • hygiene.type 2
  • Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles
  • Complement component 2 deficiency is a disorder that causes the immune system to malfunction
  • At least three mutations in the TPM2 gene have been found to cause distal arthrogryposis type 1, a
  • The COL9A2 gene provides instructions for making part of a large molecule called type IX collagen
  • health problems related to the disorder.types of complement component 8 deficiency, types
  • type 2, a disorder of bone growth characterized by severe skeletal abnormalities and hearing loss
  • will also develop characteristic features of a condition known as neurofibromatosis, including

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  • severity of symptoms typically depends on how many and which types of cells contain the ring chromosome 2
  • More than 1,000 NF1 mutations that cause neurofibromatosis type 1 have been identified. Most of
  • schwannomatosis that is similar to neurofibromatosis type 2. This condition is characterized by the development
  • The PTPN11 gene provides instructions for making a protein called SHP-2. This protein helps
  • Researchers have identified more than 30 D2HGDH gene mutations that cause a type of 2
  • brachydactyly type B1. This condition is characterized by abnormally short fingers and toes, particularly the
  • At least two mutations in the IDH2 gene have been found to cause a type of 2-hydroxyglutaric
  • Researchers have identified more than 70 mutations in the L2HGDH gene that cause a type of 2
  • type, one form of a condition that has features of both of the two previously described conditions
  • The ADAMTS2 gene provides instructions for making an enzyme that processes several types of
  • called the kyphoscoliosis type. Ehlers-Danlos syndrome is a group of disorders that affect the connective
  • toxic compounds.type of fatty
  • will also develop characteristic features of a condition known as neurofibromatosis, including
  • At least three mutations in the TPM2 gene have been found to cause distal arthrogryposis type 1, a
  • The COL9A2 gene provides instructions for making part of a large molecule called type IX collagen
  • type 2, a disorder of bone growth characterized by severe skeletal abnormalities and hearing loss
  • will also develop characteristic features of a condition known as neurofibromatosis, including