From HPO
Vascular dilatation- MedGen UID:
- 8076
- •Concept ID:
- C0002940
- •
- Pathologic Function
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Abnormal morphology of the vestibule of the inner ear- MedGen UID:
- 852662
- •Concept ID:
- C0542259
- •
- Finding
A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.
Hypoplasia of the semicircular canal- MedGen UID:
- 765070
- •Concept ID:
- C3552156
- •
- Finding
Underdevelopment of the semicircular canal.
Aplasia of the semicircular canal- MedGen UID:
- 868971
- •Concept ID:
- C4023385
- •
- Anatomical Abnormality
Absence of the semicircular canal.
Dilated vestibule of the inner ear- MedGen UID:
- 868973
- •Concept ID:
- C4023387
- •
- Anatomical Abnormality
Dilatation of the vestibule of the inner ear.
Anosmia- MedGen UID:
- 1950
- •Concept ID:
- C0003126
- •
- Finding
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
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.
Cerebral hypomyelination- MedGen UID:
- 383084
- •Concept ID:
- C2677328
- •
- Finding
Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hypertonia- MedGen UID:
- 10132
- •Concept ID:
- C0026826
- •
- Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Axial hypotonia- MedGen UID:
- 342959
- •Concept ID:
- C1853743
- •
- Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Pectus excavatum- MedGen UID:
- 781174
- •Concept ID:
- C2051831
- •
- Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Cafe-au-lait spot- MedGen UID:
- 113157
- •Concept ID:
- C0221263
- •
- Finding
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Premature graying of hair- MedGen UID:
- 75524
- •Concept ID:
- C0263498
- •
- Finding
Development of gray hair at a younger than normal age.
White forelock- MedGen UID:
- 91023
- •Concept ID:
- C0344312
- •
- Finding
A triangular depigmented region of white hairs located in the anterior midline of the scalp.
Hypopigmented skin patches- MedGen UID:
- 373164
- •Concept ID:
- C1836735
- •
- Finding
White eyelashes- MedGen UID:
- 332275
- •Concept ID:
- C1836736
- •
- Finding
White color (lack of pigmentation) of the eyelashes.
White eyebrow- MedGen UID:
- 373165
- •Concept ID:
- C1836737
- •
- Finding
White color (lack of pigmentation) of the eyebrow.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Ocular albinism- MedGen UID:
- 38147
- •Concept ID:
- C0078917
- •
- Congenital Abnormality
An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.
Hypopigmentation of the fundus- MedGen UID:
- 101805
- •Concept ID:
- C0151891
- •
- Disease or Syndrome
Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).
Iris hypopigmentation- MedGen UID:
- 509721
- •Concept ID:
- C0154920
- •
- Finding
An abnormal reduction in the amount of pigmentation of the iris.
Hypoplasia of the iris- MedGen UID:
- 91029
- •Concept ID:
- C0344539
- •
- Congenital Abnormality
Congenital underdevelopment of the iris.
Heterochromia iridis- MedGen UID:
- 98395
- •Concept ID:
- C0423318
- •
- Finding
Heterochromia iridis is a difference in the color of the iris in the two eyes.
Blue irides- MedGen UID:
- 108297
- •Concept ID:
- C0578626
- •
- Finding
A markedly blue coloration of the iris.
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation