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Items: 10

1.

Prostatitis

The presence of inflammation of the prostate. [from HPO]

MedGen UID:
10965
Concept ID:
C0033581
Disease or Syndrome
2.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
3.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Quantitative Concept
4.

Recurrent urinary tract infections

Repeated infections of the urinary tract. [from HPO]

MedGen UID:
500878
Concept ID:
CN000011
Finding
5.

Recurrent UTI

Repeated infections of the urinary tract. [from HPO]

MedGen UID:
120466
Concept ID:
C0262655
Disease or Syndrome
6.

CHARGE association

CHARGE is a mnemonic for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. CHARGE syndrome is characterized by the following: Unilateral or bilateral coloboma of the iris, retina-choroid, and/or disc with or without microphthalmos (80%-90% of individuals). Unilateral or bilateral choanal atresia or stenosis (50%-60%). Cranial nerve dysfunction resulting in hyposmia or anosmia, unilateral or bilateral facial palsy (40%), impaired hearing, and/or swallowing problems (70%-90%). Abnormal outer ears, ossicular malformations, Mondini defect of the cochlea and absent or hypoplastic semicircular canals (>90%). Cryptorchidism in males and hypogonadotropic hypogonadism in both males and females. Developmental delay. Cardiovascular malformations (75%-85%). Growth deficiency (70%-80%). Orofacial clefts (15%-20%). Tracheoesophageal fistula (15%-20%). Neonates with CHARGE syndrome often have multiple life-threatening medical conditions. Feeding difficulties are a major cause of morbidity in all age groups. [from GeneReviews]

MedGen UID:
75567
Concept ID:
C0265354
Congenital Abnormality; Disease or Syndrome
7.

Recurrent infections

Increased susceptibility to infections. [from HPO]

MedGen UID:
65998
Concept ID:
C0239998
Finding
8.

Multiple endocrine neoplasia

An inherited condition that may result in the development of cancers of the endocrine system. There are several types of multiple endocrine neoplasia syndrome, and patients with each type may develop different types of cancer. The altered genes that cause each type can be detected with a blood test. [from NCI]

MedGen UID:
45036
Concept ID:
C0027662
Neoplastic Process
9.

Recurrent parasitic infections

MedGen UID:
896168
Concept ID:
C4280726
Finding
10.

Recurrent protozoan infections

Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection. [from HPO]

MedGen UID:
870746
Concept ID:
C4025202
Finding
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