From HPO
Hamartoma of tongue- MedGen UID:
- 98465
- •Concept ID:
- C0431565
- •
- Finding
A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.
Postaxial hand polydactyly- MedGen UID:
- 609221
- •Concept ID:
- C0431904
- •
- Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
2-3 finger syndactyly- MedGen UID:
- 96573
- •Concept ID:
- C0432055
- •
- Congenital Abnormality
Syndactyly with fusion of fingers two and three.
Broad hallux- MedGen UID:
- 401165
- •Concept ID:
- C1867131
- •
- Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Postaxial polydactyly type A- MedGen UID:
- 854350
- •Concept ID:
- C3887487
- •
- Disease or Syndrome
Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.
2-3 toe syndactyly- MedGen UID:
- 1645640
- •Concept ID:
- C4551570
- •
- Congenital Abnormality
Syndactyly with fusion of toes two and three.
Coarctation of aorta- MedGen UID:
- 1617
- •Concept ID:
- C0003492
- •
- Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Complete atrioventricular canal- MedGen UID:
- 65132
- •Concept ID:
- C0221215
- •
- Congenital Abnormality
A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
Subvalvular aortic stenosis- MedGen UID:
- 90950
- •Concept ID:
- C0340375
- •
- Disease or Syndrome
A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
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).
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Neoplasm