From HPO
Dystonic disorder- MedGen UID:
- 3940
- •Concept ID:
- C0013421
- •
- Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Lobar holoprosencephaly- MedGen UID:
- 96559
- •Concept ID:
- C0431362
- •
- Congenital Abnormality
A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.
Semilobar holoprosencephaly- MedGen UID:
- 199694
- •Concept ID:
- C0751617
- •
- Congenital Abnormality
A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.
Aplasia of the olfactory tract- MedGen UID:
- 1696405
- •Concept ID:
- C5209227
- •
- Congenital Abnormality
Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.
Absent nasal septal cartilage- MedGen UID:
- 867277
- •Concept ID:
- C4021638
- •
- Anatomical Abnormality
Lack of the cartilage of the nasal septum.
Aplasia of the premaxilla- MedGen UID:
- 869286
- •Concept ID:
- C4023712
- •
- Finding
Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Depressed nasal bridge- MedGen UID:
- 373112
- •Concept ID:
- C1836542
- •
- Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Median cleft upper lip- MedGen UID:
- 342454
- •Concept ID:
- C1850256
- •
- Congenital Abnormality
A type of cleft lip presenting as a midline (median) gap in the upper lip.
Median cleft palate- MedGen UID:
- 340670
- •Concept ID:
- C1850968
- •
- Congenital Abnormality
Cleft palate of the midline of the palate.
Depressed nasal tip- MedGen UID:
- 347214
- •Concept ID:
- C1859717
- •
- Finding
Decreased distance from the nasal tip to the nasal base.
Diabetes insipidus- MedGen UID:
- 8349
- •Concept ID:
- C0011848
- •
- Disease or Syndrome
A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).
Ptosis- MedGen UID:
- 2287
- •Concept ID:
- C0005745
- •
- Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Hypotelorism- MedGen UID:
- 96107
- •Concept ID:
- C0424711
- •
- Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
- Abnormality of head or neck
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system