From HPO
Unilateral renal agenesis- MedGen UID:
- 75607
- •Concept ID:
- C0266294
- •
- Congenital Abnormality
A unilateral form of agenesis of the kidney.
Renal agenesis- MedGen UID:
- 154237
- •Concept ID:
- C0542519
- •
- Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Ebstein anomaly- MedGen UID:
- 4435
- •Concept ID:
- C0013481
- •
- Congenital Abnormality
Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right ventricle. The valve leaflets may be dysplastic, and a variable portion of the proximal part of the right ventricle is in continuity with the right atrium ('atrialized'), because of the abnormally positioned tricuspid valve. The severity of this defect includes a spectrum ranging from severe disturbance in fetal and neonatal life to virtually asymptomatic survival to adult life. Associated extracardiac anomalies in the setting of chromosomal or mendelian disorders occur in about 20% of patients with Ebstein anomaly. Nonsyndromic Ebstein anomaly can occur as a sporadic or a familial defect (summary by Digilio et al., 2011).
Rectovaginal fistula- MedGen UID:
- 11152
- •Concept ID:
- C0034895
- •
- Finding
The presence of a fistula between the vagina and the rectum.
Anteriorly placed anus- MedGen UID:
- 333160
- •Concept ID:
- C1838705
- •
- Finding
Anterior malposition of the anus.
Low-set ears- MedGen UID:
- 65980
- •Concept ID:
- C0239234
- •
- Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears- MedGen UID:
- 96566
- •Concept ID:
- C0431478
- •
- Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Overfolded helix- MedGen UID:
- 325239
- •Concept ID:
- C1837731
- •
- Finding
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
Intellectual disability, mild- MedGen UID:
- 10044
- •Concept ID:
- C0026106
- •
- Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Brachycephaly- MedGen UID:
- 113165
- •Concept ID:
- C0221356
- •
- Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Bifid nose- MedGen UID:
- 66379
- •Concept ID:
- C0221363
- •
- Congenital Abnormality
Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.
Bulbous nose- MedGen UID:
- 66013
- •Concept ID:
- C0240543
- •
- Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Short lingual frenulum- MedGen UID:
- 604928
- •Concept ID:
- C0426501
- •
- Finding
The presence of an abnormally short lingual frenulum.
Widely-spaced maxillary central incisors- MedGen UID:
- 322746
- •Concept ID:
- C1835762
- •
- Finding
Increased distance between the maxillary central permanent incisor tooth.
Thick eyebrow- MedGen UID:
- 377914
- •Concept ID:
- C1853487
- •
- Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Short philtrum- MedGen UID:
- 350006
- •Concept ID:
- C1861324
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Precocious puberty- MedGen UID:
- 18752
- •Concept ID:
- C0034013
- •
- Disease or Syndrome
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
- Abnormality of head or neck
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation