From HPO
Nephrotic syndrome- MedGen UID:
- 10308
- •Concept ID:
- C0027726
- •
- Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hepatosplenomegaly- MedGen UID:
- 9225
- •Concept ID:
- C0019214
- •
- Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Eosinophilic colitis- MedGen UID:
- 75633
- •Concept ID:
- C0267448
- •
- Disease or Syndrome
An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.
Hepatic cysts- MedGen UID:
- 82761
- •Concept ID:
- C0267834
- •
- Disease or Syndrome
A cystic lesion located in the liver.
Eosinophilic liver infiltration- MedGen UID:
- 1670981
- •Concept ID:
- C4732806
- •
- Finding
Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.
Asthma- MedGen UID:
- 2109
- •Concept ID:
- C0004096
- •
- Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Atopic eczema- MedGen UID:
- 41502
- •Concept ID:
- C0011615
- •
- Disease or Syndrome
Atopic dermatitis (ATOD), also known as eczema, is a common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life (review by Soderhall et al., 2007).
Genetic Heterogeneity of Atopic Dermatitis
Many inflammatory diseases, such as atopic eczema, are genetically complex, with multiple alleles at several loci thought to be involved in their pathogenesis. Several susceptibility loci for atopic dermatitis have been identified: ATOD1 on chromosome 3q21, ATOD2 (605803) on chromosome 1q21, ATOD3 (605804) on chromosome 20p, ATOD4 (605805) on chromosome 17q25.3, ATOD5 (603165) on chromosome 13q12-q14, ATOD6 (605845) on chromosome 5q31-q33, ATOD7 (613064) on chromosome 11q13.5, ATOD8 (613518) on chromosome 4q22.1, and ATOD9 (613519) on chromosome 3p24.
Eosinophilia- MedGen UID:
- 41824
- •Concept ID:
- C0014457
- •
- Disease or Syndrome
Increased count of eosinophils in the blood.
Membranous nephropathy- MedGen UID:
- 42231
- •Concept ID:
- C0017665
- •
- Disease or Syndrome
A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.
Recurrent viral infections- MedGen UID:
- 332357
- •Concept ID:
- C1837066
- •
- Finding
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
Food allergy- MedGen UID:
- 1635115
- •Concept ID:
- C4554344
- •
- Disease or Syndrome
Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.
Hypothyroidism- MedGen UID:
- 6991
- •Concept ID:
- C0020676
- •
- Disease or Syndrome
Deficiency of thyroid hormone.
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Growth abnormality