From HPO
Carcinoma- MedGen UID:
- 2867
- •Concept ID:
- C0007097
- •
- Neoplastic Process
A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).
Laryngeal carcinoma- MedGen UID:
- 108889
- •Concept ID:
- C0595989
- •
- Neoplastic Process
A carcinoma of the larynx.
Clitoral hypertrophy- MedGen UID:
- 57848
- •Concept ID:
- C0156394
- •
- Finding
Hypertrophy of the clitoris.
Decreased testicular size- MedGen UID:
- 66027
- •Concept ID:
- C0241355
- •
- Finding
Reduced volume of the testicle (the male gonad).
Ambiguous genitalia- MedGen UID:
- 78596
- •Concept ID:
- C0266362
- •
- Congenital Abnormality
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale
Hypospadias- MedGen UID:
- 163083
- •Concept ID:
- C0848558
- •
- Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
External genital hypoplasia- MedGen UID:
- 344478
- •Concept ID:
- C1855333
- •
- Finding
Underdevelopment of part or all of the external reproductive organs.
Ovotestis- MedGen UID:
- 1634511
- •Concept ID:
- C4551490
- •
- Congenital Abnormality
A gonad that contains both ovarian follicles and testicular tubular elements.
Palmoplantar keratoderma- MedGen UID:
- 1635750
- •Concept ID:
- C4551675
- •
- Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Hypercholesterolemia- MedGen UID:
- 5687
- •Concept ID:
- C0020443
- •
- Disease or Syndrome
An increased concentration of cholesterol in the blood.
Hypertriglyceridemia- MedGen UID:
- 167238
- •Concept ID:
- C0813230
- •
- Finding
An abnormal increase in the level of triglycerides in the blood.
Premature loss of permanent teeth- MedGen UID:
- 409904
- •Concept ID:
- C1969738
- •
- Finding
Premature loss of the permanent teeth.
Sclerodactyly- MedGen UID:
- 472893
- •Concept ID:
- C0150988
- •
- Disease or Syndrome
Localized thickening and tightness of the skin of the fingers or toes.
Nail dystrophy- MedGen UID:
- 66368
- •Concept ID:
- C0221260
- •
- Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Small nail- MedGen UID:
- 537942
- •Concept ID:
- C0263523
- •
- Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Palmoplantar hyperhidrosis- MedGen UID:
- 224808
- •Concept ID:
- C1274743
- •
- Disease or Syndrome
Hyperhidrosis palmaris et plantaris (HYPRPP) is characterized by excessive perspiration of the eccrine sweat gland in the palm, sole, and axilla. Perspiration in those affected may be aggravated by emotional stimuli (summary by Higashimoto et al., 2006).
Stolman (1998) noted that hyperhidrosis may be complicated by skin maceration as well as secondary microbial infections, and that treatment modalities are associated with complications.
Orthokeratotic hyperkeratosis- MedGen UID:
- 811321
- •Concept ID:
- C3670629
- •
- Disease or Syndrome
A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.
Gynecomastia- MedGen UID:
- 6694
- •Concept ID:
- C0018418
- •
- Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the breast
- Abnormality of the genitourinary system
- Abnormality of the integument
- Neoplasm