From HPO
Abnormality of the skin- MedGen UID:
- 11449
- •Concept ID:
- C0037268
- •
- Congenital Abnormality
An abnormality of the skin.
Widely-spaced incisors- MedGen UID:
- 585638
- •Concept ID:
- C0399545
- •
- Finding
Tapered finger- MedGen UID:
- 98098
- •Concept ID:
- C0426886
- •
- Finding
The gradual reduction in girth of the finger from proximal to distal.
Spondyloepimetaphyseal dysplasia- MedGen UID:
- 609408
- •Concept ID:
- C0432211
- •
- Disease or Syndrome
An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
Abnormality of the nervous system- MedGen UID:
- 105425
- •Concept ID:
- C0497552
- •
- Congenital Abnormality
An abnormality of the nervous system.
Blue sclerae- MedGen UID:
- 154236
- •Concept ID:
- C0542514
- •
- Finding
An abnormal bluish coloration of the sclera.
Genu valgum- MedGen UID:
- 154364
- •Concept ID:
- C0576093
- •
- Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Proportionate short stature- MedGen UID:
- 163901
- •Concept ID:
- C0878660
- •
- Finding
A kind of short stature in which different regions of the body are shortened to a comparable extent.
Short femoral neck- MedGen UID:
- 373033
- •Concept ID:
- C1836184
- •
- Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Narrow iliac wing- MedGen UID:
- 373150
- •Concept ID:
- C1836688
- •
- Finding
Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).
Metaphyseal irregularity- MedGen UID:
- 325478
- •Concept ID:
- C1838662
- •
- Finding
Irregularity of the normally smooth surface of the metaphyses.
Pseudoepiphyses- MedGen UID:
- 333889
- •Concept ID:
- C1841685
- •
- Finding
Irregular vertebral endplates- MedGen UID:
- 331233
- •Concept ID:
- C1842153
- •
- Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Small epiphyses- MedGen UID:
- 339612
- •Concept ID:
- C1846803
- •
- Finding
Reduction in the size or volume of epiphyses.
Broad femoral neck- MedGen UID:
- 376496
- •Concept ID:
- C1849016
- •
- Finding
An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Flared metaphysis- MedGen UID:
- 337976
- •Concept ID:
- C1850135
- •
- Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Slender finger- MedGen UID:
- 387832
- •Concept ID:
- C1857482
- •
- Finding
Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
Flattened epiphysis- MedGen UID:
- 387844
- •Concept ID:
- C1857527
- •
- Finding
Abnormal flatness (decreased height) of epiphyses.
Joint contracture of the 5th finger- MedGen UID:
- 356345
- •Concept ID:
- C1865702
- •
- Anatomical Abnormality
Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.
Discolored lateral incisors- MedGen UID:
- 401017
- •Concept ID:
- C1866510
- •
- Finding
The presence of discolored lateral incisors.
Conical mandibular incisor- MedGen UID:
- 866527
- •Concept ID:
- C4020818
- •
- Finding
An abnormal conical morphology of the primary or permanent mandibular incisors.
Oligodontia- MedGen UID:
- 904670
- •Concept ID:
- C4082304
- •
- Congenital Abnormality
The absence of six or more teeth from the normal series by a failure\nto develop.