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Viewing: All

  • Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or
  • Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and
  • to Rett syndrome, which is a disorder whose characteristic features include developmental problems
  • eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two
  • 19p13.13 deletion syndrome is a condition that results from a chromosomal change in which a small
  • keratitis-ichthyosis-deafness syndrome (KID syndrome), a disorder with similar features and the addition of
  • Found in name or synonym: palmoplantar keratoderma-hearing loss syndrome
  • Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium
  • Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People
  • Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities
  • Oral-facial-digital syndrome is actually a group of related conditions that affect the development
  • Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in
  • Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In
  • Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe
  • Related term: Sheldon-Hall syndrome
  • Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal
  • or all of these alleles.syndrome, the most severe form of alpha thalassemia, results from
  • Werner syndrome is characterized by the dramatic, rapid appearance of features associated with
  • Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in
  • 3-M syndrome is a disorder that causes short stature (dwarfism), unusual facial features, and
  • Related term: Dravet syndrome
  • syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy
  • Related term: COL4A1 stroke syndrome
  • At least 11 mutations in the SMAD3 gene have been found to cause Loeys-Dietz syndrome type III
  • poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules
  • Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops
  • is unclear whether these mutations cause Romano-Ward syndrome or lead to another heart condition with
  • pregnancies called twin-to-twin transfusion syndrome.
  • or all of these alleles.syndrome, the most severe form of alpha thalassemia, results from
  • Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome
  • Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial
  • Costello syndrome is a disorder that affects many parts of the body. This condition is
  • Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in
  • Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of
  • Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by
  • Laron syndrome is a rare form of short stature that results from the body's inability to use growth
  • Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder
  • Robinow syndrome is a rare disorder that affects the development of many parts of the body
  • Down syndrome is a chromosomal condition that is associated with intellectual disability, a
  • CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth
  • Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones
  • Swyer syndrome is a condition that affects sexual development. Sexual development is usually
  • Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the
  • Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts
  • Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic
  • Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense
  • Angelman syndrome is a complex genetic disorder that primarily affects the nervous system
  • Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly
  • Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The
  • Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits

Viewing: Health Conditions

  • Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or
  • Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and
  • eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two
  • 19p13.13 deletion syndrome is a condition that results from a chromosomal change in which a small
  • keratitis-ichthyosis-deafness syndrome (KID syndrome), a disorder with similar features and the addition of
  • Found in name or synonym: palmoplantar keratoderma-hearing loss syndrome
  • Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium
  • Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People
  • Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities
  • Oral-facial-digital syndrome is actually a group of related conditions that affect the development
  • Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in
  • Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In
  • Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe
  • Related term: Sheldon-Hall syndrome
  • Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal
  • Werner syndrome is characterized by the dramatic, rapid appearance of features associated with
  • Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in
  • 3-M syndrome is a disorder that causes short stature (dwarfism), unusual facial features, and
  • syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy
  • Related term: COL4A1 stroke syndrome
  • poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules
  • Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops
  • pregnancies called twin-to-twin transfusion syndrome.
  • Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome
  • Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial
  • Costello syndrome is a disorder that affects many parts of the body. This condition is
  • Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in
  • Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of
  • Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by
  • Laron syndrome is a rare form of short stature that results from the body's inability to use growth
  • Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder
  • Robinow syndrome is a rare disorder that affects the development of many parts of the body
  • Down syndrome is a chromosomal condition that is associated with intellectual disability, a
  • CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth
  • Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones
  • Swyer syndrome is a condition that affects sexual development. Sexual development is usually
  • Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the
  • Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts
  • Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic
  • Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense
  • Angelman syndrome is a complex genetic disorder that primarily affects the nervous system
  • Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly
  • Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The
  • Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits

Viewing: Genes

  • to Rett syndrome, which is a disorder whose characteristic features include developmental problems
  • or all of these alleles.syndrome, the most severe form of alpha thalassemia, results from
  • Related term: Dravet syndrome
  • At least 11 mutations in the SMAD3 gene have been found to cause Loeys-Dietz syndrome type III
  • is unclear whether these mutations cause Romano-Ward syndrome or lead to another heart condition with
  • or all of these alleles.syndrome, the most severe form of alpha thalassemia, results from