From HPO
Cryptorchidism- MedGen UID:
- 8192
- •Concept ID:
- C0010417
- •
- Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Uterine hypoplasia- MedGen UID:
- 120575
- •Concept ID:
- C0266399
- •
- Congenital Abnormality
Underdevelopment of the uterus.
Bifid scrotum- MedGen UID:
- 90968
- •Concept ID:
- C0341787
- •
- Congenital Abnormality
Midline indentation or cleft of the scrotum.
Hypoplasia of the vagina- MedGen UID:
- 91040
- •Concept ID:
- C0345309
- •
- Congenital Abnormality
Developmental hypoplasia of the vagina.
Small scrotum- MedGen UID:
- 141577
- •Concept ID:
- C0455792
- •
- Finding
Apparently small scrotum for age.
Hypoplastic labia majora- MedGen UID:
- 107566
- •Concept ID:
- C0566899
- •
- Finding
Undergrowth of the outer labia.
Clubfoot- MedGen UID:
- 3130
- •Concept ID:
- C0009081
- •
- Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Cutaneous finger syndactyly- MedGen UID:
- 866898
- •Concept ID:
- C4021254
- •
- Congenital Abnormality
A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.
Spina bifida occulta- MedGen UID:
- 36380
- •Concept ID:
- C0080174
- •
- Congenital Abnormality
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Dementia- MedGen UID:
- 99229
- •Concept ID:
- C0497327
- •
- Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Cleft upper lip- MedGen UID:
- 40327
- •Concept ID:
- C0008924
- •
- Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Ankyloblepharon- MedGen UID:
- 83282
- •Concept ID:
- C0339182
- •
- Anatomical Abnormality
Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
Cleft palate- MedGen UID:
- 756015
- •Concept ID:
- C2981150
- •
- Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Fibrous syngnathia- MedGen UID:
- 867034
- •Concept ID:
- C4021392
- •
- Anatomical Abnormality
Complete or nearly complete soft tissue fusion of the alveolar ridges.
Bifid uvula- MedGen UID:
- 1646931
- •Concept ID:
- C4551488
- •
- Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Lower lip pit- MedGen UID:
- 396160
- •Concept ID:
- C1861544
- •
- Finding
Depression located on the vermilion of the lower lip, usually paramedian.
Popliteal pterygium- MedGen UID:
- 811750
- •Concept ID:
- C3805420
- •
- Finding
A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).
Intercrural pterygium- MedGen UID:
- 816801
- •Concept ID:
- C3810471
- •
- Finding
A pterygium (or pterygia) in the intercrural (groin) region.
Pyramidal skinfold extending from the base to the top of the nails- MedGen UID:
- 869783
- •Concept ID:
- C4024212
- •
- Anatomical Abnormality
Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the nervous system