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Items: 5

1.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
2.

Pulmonary edema

Fluid accumulation in the lungs. [from HPO]

MedGen UID:
506492
Concept ID:
CN117490
Finding
3.

Edema

An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. [from HPO]

MedGen UID:
504667
Concept ID:
CN000907
Finding
4.

Arginine:glycine amidinotransferase deficiency

The cerebral creatine deficiency syndromes (CCDS), inborn errors of creatine metabolism, include the two creatine biosynthesis disorders, guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency, and the creatine transporter (CRTR) deficiency. Intellectual disability and seizures are common to all three CCDS. The majority of individuals with GAMT deficiency have a behavior disorder that can include autistic behaviors and self-mutilation; about 40% have movement disorder. Onset is between ages three months and three years. Only 14 individuals with AGAT deficiency have been reported. The phenotype of CRTR deficiency in affected males ranges from mild intellectual disability and speech delay to severe intellectual disability, seizures, movement disorder and behavior disorder; age at diagnosis ranges from two to 66 years. Clinical phenotype of females heterozygous for CRTR deficiency ranges from asymptomatic to severe phenotype resembling male phenotype. [from GeneReviews]

MedGen UID:
436367
Concept ID:
C2675179
Disease or Syndrome
5.

Disorder of lung

When you breathe, your lungs take in oxygen from the air and deliver it to the bloodstream. The cells in your body need oxygen to work and grow. During a normal day, you breathe nearly 25,000 times. People with lung disease have difficulty breathing. Millions of people in the U.S. have lung disease. If all types of lung disease are lumped together, it is the number three killer in the United States. The term lung disease refers to many disorders affecting the lungs, such as asthma, COPD, infections like influenza, pneumonia and tuberculosis, lung cancer, and many other breathing problems. Some lung diseases can lead to respiratory failure. Dept. of Health and Human Services Office on Women's Health.  [from MedlinePlus]

MedGen UID:
7399
Concept ID:
C0024115
Disease or Syndrome
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