From HPO
Clinodactyly of the 5th finger- MedGen UID:
- 340456
- •Concept ID:
- C1850049
- •
- Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Clinodactyly of the 5th toe- MedGen UID:
- 871256
- •Concept ID:
- C4025741
- •
- Anatomical Abnormality
Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Abnormal ear morphology- MedGen UID:
- 1640667
- •Concept ID:
- C4703491
- •
- Anatomical Abnormality
Any structural anomaly of the ear.
Aggressive behavior- MedGen UID:
- 1375
- •Concept ID:
- C0001807
- •
- Individual Behavior
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Dysplastic corpus callosum- MedGen UID:
- 98128
- •Concept ID:
- C0431369
- •
- Congenital Abnormality
Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Poor speech- MedGen UID:
- 341172
- •Concept ID:
- C1848207
- •
- Finding
Overfriendliness- MedGen UID:
- 867995
- •Concept ID:
- C4022386
- •
- Mental or Behavioral Dysfunction
A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction.
Specific learning disability- MedGen UID:
- 871302
- •Concept ID:
- C4025790
- •
- Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Primary microcephaly- MedGen UID:
- 383046
- •Concept ID:
- C2677180
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender at birth.
Hypertriglyceridemia- MedGen UID:
- 167238
- •Concept ID:
- C0813230
- •
- Finding
An abnormal increase in the level of triglycerides in the blood.
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the ear
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality