From HPO
Premature ovarian insufficiency- MedGen UID:
- 9963
- •Concept ID:
- C0025322
- •
- Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
Oligomenorrhea- MedGen UID:
- 18159
- •Concept ID:
- C0028949
- •
- Pathologic Function
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Primary amenorrhea- MedGen UID:
- 115918
- •Concept ID:
- C0232939
- •
- Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Secondary amenorrhea- MedGen UID:
- 115919
- •Concept ID:
- C0232940
- •
- Disease or Syndrome
The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.
Bicornuate uterus- MedGen UID:
- 78599
- •Concept ID:
- C0266387
- •
- Congenital Abnormality
The presence of a bicornuate uterus.
Uterine hypoplasia- MedGen UID:
- 120575
- •Concept ID:
- C0266399
- •
- Congenital Abnormality
Underdevelopment of the uterus.
Hypoplasia of the ovary- MedGen UID:
- 672766
- •Concept ID:
- C0685840
- •
- Congenital Abnormality
Developmental hypoplasia of the ovary.
Cubitus valgus- MedGen UID:
- 490152
- •Concept ID:
- C0158465
- •
- Acquired Abnormality
Abnormal positioning in which the elbows are turned out.
Obesity- MedGen UID:
- 18127
- •Concept ID:
- C0028754
- •
- Disease or Syndrome
Accumulation of substantial excess body fat.
Disproportionate tall stature- MedGen UID:
- 323048
- •Concept ID:
- C1836996
- •
- Finding
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
Progressive sensorineural hearing impairment- MedGen UID:
- 335894
- •Concept ID:
- C1843156
- •
- Disease or Syndrome
A progressive form of sensorineural hearing impairment.
Cognitive impairment- MedGen UID:
- 90932
- •Concept ID:
- C0338656
- •
- Mental or Behavioral Dysfunction
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Tarlov cyst- MedGen UID:
- 105457
- •Concept ID:
- C0520720
- •
- Disease or Syndrome
A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine.
Gait ataxia- MedGen UID:
- 155642
- •Concept ID:
- C0751837
- •
- Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Osteoporosis- MedGen UID:
- 14535
- •Concept ID:
- C0029456
- •
- Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
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).
Decreased serum estradiol- MedGen UID:
- 69129
- •Concept ID:
- C0241011
- •
- Finding
A reduction below normal concentration of estradiol in the circulation.
Increased circulating gonadotropin level- MedGen UID:
- 400008
- •Concept ID:
- C1862265
- •
- Finding
Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.
Strabismus- MedGen UID:
- 21337
- •Concept ID:
- C0038379
- •
- Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the ear
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality