From HPO
Horseshoe kidney- MedGen UID:
- 65140
- •Concept ID:
- C0221353
- •
- Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Renal hypoplasia- MedGen UID:
- 120571
- •Concept ID:
- C0266295
- •
- Congenital Abnormality
Hypoplasia of the kidney.
Aplasia of the uterus- MedGen UID:
- 98421
- •Concept ID:
- C0425913
- •
- Finding
Aplasia of the uterus.
Hydrocele testis- MedGen UID:
- 318568
- •Concept ID:
- C1720771
- •
- Congenital Abnormality
Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
Anteriorly displaced urethral meatus- MedGen UID:
- 870211
- •Concept ID:
- C4024648
- •
- Anatomical Abnormality
Severe postnatal growth retardation- MedGen UID:
- 347510
- •Concept ID:
- C1857641
- •
- Finding
Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.
Intellectual disability, progressive- MedGen UID:
- 337397
- •Concept ID:
- C1846149
- •
- Mental or Behavioral Dysfunction
The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Short nose- MedGen UID:
- 343052
- •Concept ID:
- C1854114
- •
- Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Hypertelorism- MedGen UID:
- 9373
- •Concept ID:
- C0020534
- •
- Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
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 the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality