From HPO
Fetal growth restriction- MedGen UID:
- 4693
- •Concept ID:
- C0015934
- •
- Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Delayed ability to walk- MedGen UID:
- 66034
- •Concept ID:
- C0241726
- •
- Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Dentinogenesis imperfecta- MedGen UID:
- 8313
- •Concept ID:
- C0011436
- •
- Congenital Abnormality
Developmental dysplasia of dentin.
Recurrent fractures- MedGen UID:
- 42094
- •Concept ID:
- C0016655
- •
- Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Pseudoarthrosis- MedGen UID:
- 46175
- •Concept ID:
- C0033785
- •
- Finding
A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint").
Slender long bone- MedGen UID:
- 331446
- •Concept ID:
- C1833144
- •
- Finding
Reduced diameter of a long bone.
Thin bony cortex- MedGen UID:
- 318844
- •Concept ID:
- C1833325
- •
- Finding
Abnormal thinning of the cortical region of bones.
Multiple prenatal fractures- MedGen UID:
- 377844
- •Concept ID:
- C1853171
- •
- Finding
The presence of bone fractures in the prenatal period that are diagnosed at birth or before.
Bowing of the long bones- MedGen UID:
- 340849
- •Concept ID:
- C1855340
- •
- Congenital Abnormality
A bending or abnormal curvature of a long bone.
Reduced bone mineral density- MedGen UID:
- 393152
- •Concept ID:
- C2674432
- •
- Finding
A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Wormian bones- MedGen UID:
- 766814
- •Concept ID:
- C3553900
- •
- Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Multiple small vertebral fractures- MedGen UID:
- 870665
- •Concept ID:
- C4025119
- •
- Injury or Poisoning
Abnormal blood phosphate concentration- MedGen UID:
- 867643
- •Concept ID:
- C4022032
- •
- Finding
An abnormality of phosphate homeostasis or concentration in the body.
Abnormal circulating calcium concentration- MedGen UID:
- 868059
- •Concept ID:
- C4022450
- •
- Finding
Any deviation from the normal concentration of calcium in the blood circulation.
Decreased circulating osteocalcin level- MedGen UID:
- 1625214
- •Concept ID:
- C4531125
- •
- Finding
A reduced level of osteocalcin in the blood.
- Abnormality of metabolism/homeostasis
- Abnormality of the endocrine system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation
- Growth abnormality