From HPO
Stage 5 chronic kidney disease- MedGen UID:
- 384526
- •Concept ID:
- C2316810
- •
- Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Short phalanx of finger- MedGen UID:
- 163753
- •Concept ID:
- C0877165
- •
- Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Osteolytic defects of the distal phalanges of the hand- MedGen UID:
- 341480
- •Concept ID:
- C1849547
- •
- Finding
Acroosteolysis of distal phalanges (feet)- MedGen UID:
- 871254
- •Concept ID:
- C4025739
- •
- Anatomical Abnormality
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Delayed cranial suture closure- MedGen UID:
- 75805
- •Concept ID:
- C0277828
- •
- Finding
Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
Flexion contracture- MedGen UID:
- 83069
- •Concept ID:
- C0333068
- •
- Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Short clavicles- MedGen UID:
- 96529
- •Concept ID:
- C0426799
- •
- Congenital Abnormality
Reduced length of the clavicles.
Loss of truncal subcutaneous adipose tissue- MedGen UID:
- 331962
- •Concept ID:
- C1835384
- •
- Finding
Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.
Progressive clavicular acroosteolysis- MedGen UID:
- 324869
- •Concept ID:
- C1837757
- •
- Finding
Progressive bone resorption in the distal part of the clavicle.
Decreased adipose tissue around neck- MedGen UID:
- 325247
- •Concept ID:
- C1837763
- •
- Finding
Reduced amount of adipose tissue in the region of the neck.
Loss of subcutaneous adipose tissue in limbs- MedGen UID:
- 325248
- •Concept ID:
- C1837764
- •
- Finding
Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.
Loss of facial adipose tissue- MedGen UID:
- 325251
- •Concept ID:
- C1837767
- •
- Finding
Loss of normal subcutaneous fat tissue in the face.
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.
Generalized lipodystrophy- MedGen UID:
- 1369615
- •Concept ID:
- C4317112
- •
- Disease or Syndrome
Generalized degenerative changes of the fat tissue.
Hyperglycemia- MedGen UID:
- 5689
- •Concept ID:
- C0020456
- •
- Disease or Syndrome
An increased concentration of glucose in the blood.
Hyperlipidemia- MedGen UID:
- 5692
- •Concept ID:
- C0020473
- •
- Disease or Syndrome
An elevated lipid concentration in the blood.
Glucose intolerance- MedGen UID:
- 75760
- •Concept ID:
- C0271650
- •
- Disease or Syndrome
Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
Insulin-resistant diabetes mellitus- MedGen UID:
- 163439
- •Concept ID:
- C0854110
- •
- Disease or Syndrome
A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.
Narrow mouth- MedGen UID:
- 44435
- •Concept ID:
- C0026034
- •
- Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Dental crowding- MedGen UID:
- 11850
- •Concept ID:
- C0040433
- •
- Finding
Changes in alignment of teeth in the dental arch
Premature loss of teeth- MedGen UID:
- 66678
- •Concept ID:
- C0232513
- •
- Finding
Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.
Hypoplasia of teeth- MedGen UID:
- 852449
- •Concept ID:
- C0235357
- •
- Congenital Abnormality
Developmental hypoplasia of teeth.
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Abnormality of the neck- MedGen UID:
- 540042
- •Concept ID:
- C0266623
- •
- Congenital Abnormality
An abnormality of the neck.
Bird-like facies- MedGen UID:
- 325243
- •Concept ID:
- C1837758
- •
- Finding
Narrow nasal ridge- MedGen UID:
- 373404
- •Concept ID:
- C1837761
- •
- Finding
Decreased width of the nasal ridge.
Short nose- MedGen UID:
- 343052
- •Concept ID:
- C1854114
- •
- Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Alopecia- MedGen UID:
- 7982
- •Concept ID:
- C0002170
- •
- Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Dermal atrophy- MedGen UID:
- 101793
- •Concept ID:
- C0151514
- •
- Disease or Syndrome
Partial or complete wasting (atrophy) of the skin.
Brittle hair- MedGen UID:
- 120480
- •Concept ID:
- C0263490
- •
- Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Mottled pigmentation- MedGen UID:
- 163653
- •Concept ID:
- C0860439
- •
- Finding
Patchy and irregular skin pigmentation.
Prominent superficial veins- MedGen UID:
- 324870
- •Concept ID:
- C1837785
- •
- Finding
A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal.
Progeroid facial appearance- MedGen UID:
- 341830
- •Concept ID:
- C1857710
- •
- Finding
A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.
Sparse hair- MedGen UID:
- 1790211
- •Concept ID:
- C5551005
- •
- Finding
Reduced density of hairs.
Hyperinsulinemia- MedGen UID:
- 43779
- •Concept ID:
- C0020459
- •
- Disease or Syndrome
An increased concentration of insulin in the blood.
Proptosis- MedGen UID:
- 41917
- •Concept ID:
- C0015300
- •
- Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Growth abnormality