From HPO
Aplasia of the vagina- MedGen UID:
- 330738
- •Concept ID:
- C1841990
- •
- Finding
Aplasia of the vagina.
Congenital sensorineural hearing impairment- MedGen UID:
- 356101
- •Concept ID:
- C1865866
- •
- Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
Myelomeningocele- MedGen UID:
- 7538
- •Concept ID:
- C0025312
- •
- Congenital Abnormality
Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
Spina bifida- MedGen UID:
- 38283
- •Concept ID:
- C0080178
- •
- Congenital Abnormality
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Congenital elevation of scapula- MedGen UID:
- 56291
- •Concept ID:
- C0152438
- •
- Congenital Abnormality
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
Supernumerary vertebrae- MedGen UID:
- 75583
- •Concept ID:
- C0265681
- •
- Congenital Abnormality
Supernumerary ribs- MedGen UID:
- 83380
- •Concept ID:
- C0345397
- •
- Congenital Abnormality
The presence of more than 12 rib pairs.
Blepharophimosis- MedGen UID:
- 2670
- •Concept ID:
- C0005744
- •
- Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Mandibular prognathia- MedGen UID:
- 98316
- •Concept ID:
- C0399526
- •
- Finding
Abnormal prominence of the chin related to increased length of the mandible.
Telecanthus- MedGen UID:
- 140836
- •Concept ID:
- C0423113
- •
- Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Smooth philtrum- MedGen UID:
- 222980
- •Concept ID:
- C1142533
- •
- Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Underdeveloped nasal alae- MedGen UID:
- 322332
- •Concept ID:
- C1834055
- •
- Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Thick eyebrow- MedGen UID:
- 377914
- •Concept ID:
- C1853487
- •
- Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Oral cleft- MedGen UID:
- 893092
- •Concept ID:
- C4021813
- •
- Congenital Abnormality
The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Partial albinism- MedGen UID:
- 36361
- •Concept ID:
- C0080024
- •
- Congenital Abnormality
Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004).
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.
Synophrys- MedGen UID:
- 98132
- •Concept ID:
- C0431447
- •
- Congenital Abnormality
Meeting of the medial eyebrows in the midline.
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.
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).
Hypopigmentation of the fundus- MedGen UID:
- 101805
- •Concept ID:
- C0151891
- •
- Disease or Syndrome
Reduced pigmentation of the fundus, typically generalised. 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).
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.
Hypoplastic iris stroma- MedGen UID:
- 349788
- •Concept ID:
- C1860344
- •
- Finding
Underdevelopment of the stroma of iris.
- Abnormality of head or neck
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation