From HPO
Pes valgus- MedGen UID:
- 299028
- •Concept ID:
- C1578482
- •
- Anatomical Abnormality
An outward deviation of the foot at the talocalcaneal or subtalar joint.
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.
Inability to walk- MedGen UID:
- 107860
- •Concept ID:
- C0560046
- •
- Finding
Incapability to ambulate.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Joint contracture- MedGen UID:
- 3228
- •Concept ID:
- C0009918
- •
- Anatomical Abnormality
A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Muscular dystrophy- MedGen UID:
- 44527
- •Concept ID:
- C0026850
- •
- Disease or Syndrome
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Neck muscle weakness- MedGen UID:
- 66808
- •Concept ID:
- C0240479
- •
- Finding
Decreased strength of the neck musculature.
Centrally nucleated skeletal muscle fibers- MedGen UID:
- 330782
- •Concept ID:
- C1842170
- •
- Finding
An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
Axial muscle weakness- MedGen UID:
- 334472
- •Concept ID:
- C1843697
- •
- Finding
Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).
Increased variability in muscle fiber diameter- MedGen UID:
- 336019
- •Concept ID:
- C1843700
- •
- Finding
An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Spinal rigidity- MedGen UID:
- 346721
- •Concept ID:
- C1858025
- •
- Finding
Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.
Pectus excavatum- MedGen UID:
- 781174
- •Concept ID:
- C2051831
- •
- Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Increased endomysial connective tissue- MedGen UID:
- 867771
- •Concept ID:
- C4022161
- •
- Finding
An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.
Angulated muscle fibers- MedGen UID:
- 1699728
- •Concept ID:
- C5233187
- •
- Finding
Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip.
Reduced forced vital capacity- MedGen UID:
- 337630
- •Concept ID:
- C1846678
- •
- Finding
An abnormal reduction in the amount of air a person can expel following maximal inspiration.
Respiratory insufficiency due to muscle weakness- MedGen UID:
- 812797
- •Concept ID:
- C3806467
- •
- Finding
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).
Dry skin- MedGen UID:
- 56250
- •Concept ID:
- C0151908
- •
- Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Phrynoderma- MedGen UID:
- 83101
- •Concept ID:
- C0334013
- •
- Disease or Syndrome
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system