From HPO
Nephroblastoma- MedGen UID:
- 10221
- •Concept ID:
- C0027708
- •
- Neoplastic Process
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Ovarian gonadoblastoma- MedGen UID:
- 309510
- •Concept ID:
- C1518716
- •
- Neoplastic Process
The presence of a gonadoblastoma of the ovary.
Focal segmental glomerulosclerosis- MedGen UID:
- 4904
- •Concept ID:
- C0017668
- •
- Disease or Syndrome
Segmental accumulation of scar tissue in individual (but not all) glomeruli.
Gonadal dysgenesis- MedGen UID:
- 9075
- •Concept ID:
- C0018051
- •
- Congenital Abnormality
A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.
Kidney disorder- MedGen UID:
- 9635
- •Concept ID:
- C0022658
- •
- Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
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.
Male pseudohermaphroditism- MedGen UID:
- 68666
- •Concept ID:
- C0238395
- •
- Congenital Abnormality
Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.
True hermaphroditism- MedGen UID:
- 78595
- •Concept ID:
- C0266361
- •
- Disease or Syndrome
The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.
Uterus didelphys- MedGen UID:
- 82740
- •Concept ID:
- C0266393
- •
- Congenital Abnormality
A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.
Septate vagina- MedGen UID:
- 82741
- •Concept ID:
- C0266411
- •
- Congenital Abnormality
The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.
Diffuse mesangial sclerosis- MedGen UID:
- 78698
- •Concept ID:
- C0268747
- •
- Disease or Syndrome
Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.
Enlarged kidney- MedGen UID:
- 108156
- •Concept ID:
- C0542518
- •
- Finding
An abnormal increase in the size of the kidney.
Gonadal tissue inappropriate for external genitalia or chromosomal sex- MedGen UID:
- 348064
- •Concept ID:
- C1860268
- •
- Finding
Stage 5 chronic kidney disease- MedGen UID:
- 384526
- •Concept ID:
- C2316810
- •
- Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Ambiguous genitalia, male- MedGen UID:
- 867446
- •Concept ID:
- C4021823
- •
- Finding
Ambiguous genitalia in an individual with XY genetic gender.
Ambiguous genitalia, female- MedGen UID:
- 892752
- •Concept ID:
- C4025891
- •
- Congenital Abnormality
Ambiguous genitalia in an individual with XX genetic gender.
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Congenital diaphragmatic hernia- MedGen UID:
- 68625
- •Concept ID:
- C0235833
- •
- Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.
Posterolateral diaphragmatic hernia- MedGen UID:
- 539426
- •Concept ID:
- C0265700
- •
- Congenital Abnormality
A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.
Wide anterior fontanel- MedGen UID:
- 400926
- •Concept ID:
- C1866134
- •
- Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Neonatal respiratory distress- MedGen UID:
- 924182
- •Concept ID:
- C4281993
- •
- Finding
Respiratory difficulty as newborn.
Epicanthus- MedGen UID:
- 151862
- •Concept ID:
- C0678230
- •
- Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
- Abnormality of head or neck
- Abnormality of the cardiovascular system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system
- Neoplasm