Gene: ACTA1
Cytoband position: 1q42.13
OMIM: 102610
RVIS score: -0.30
RVIS percentage: 32.62
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Delayed gross motor development | HP:0002194 | HP:0006905,HP:0007046,HP:0008973 | A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. |
| Narrow chest | HP:0000774 | HP:0000909,HP:0005252,HP:0006588 | Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. |
| Abnormality on pulmonary function testing | HP:0030878 | HP:0032340 | Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. |
| Hypoxemia | HP:0012418 | None | An abnormally low level of blood oxygen. |
| Hypercapnia | HP:0012416 | None | Abnormally elevated blood carbon dioxide (CO2) level. |
| Abnormality of body weight | HP:0004323 | HP:0010718 | An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. |
| Abnormality of prenatal development or birth | HP:0001197 | None | An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. |
| Increased inflammatory response | HP:0012649 | None | A abnormal increase in the inflammatory response to injury or infection. |
| Abnormal inflammatory response | HP:0012647 | None | Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| Pace of progression | HP:0003679 | None | None |
| Abnormality of the neck | HP:0000464 | None | An abnormality of the neck. |
| Abnormality of the vertebral column | HP:0000925 | None | Any abnormality of the vertebral column. |
| Motor delay | HP:0001270 | HP:0001307,HP:0002130,HP:0006788,HP:0006826,HP:0006909,HP:0006950,HP:0006968,HP:0007219,HP:0007251 | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| Distal muscle weakness | HP:0002460 | HP:0002598,HP:0002935,HP:0003497,HP:0006940,HP:0009008 | Reduced strength of the musculature of the distal extremities. |
| Global developmental delay | HP:0001263 | HP:0000754,HP:0001255,HP:0001277,HP:0001292,HP:0002433,HP:0002473,HP:0002532,HP:0006793,HP:0006867,HP:0006885,HP:0006935,HP:0007005,HP:0007094,HP:0007106,HP:0007174,HP:0007224,HP:0007228,HP:0007342,HP:0025356 | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| Gait disturbance | HP:0001288 | HP:0006953 | The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. |
| Abnormality of cardiovascular system electrophysiology | HP:0030956 | None | An anomaly of the electrical conduction physiology of the heart. |
| Hand muscle atrophy | HP:0009130 | HP:0006967,HP:0008934,HP:0008951,HP:0009038 | Muscular atrophy involving the muscles of the hand. |
| Abnormality of the nervous system | HP:0000707 | HP:0001333,HP:0006987 | An abnormality of the nervous system. |
| Skeletal muscle atrophy | HP:0003202 | HP:0001299,HP:0003545,HP:0003671,HP:0003702,HP:0003746,HP:0006995,HP:0007171,HP:0007356,HP:0009010,HP:0009048,HP:0100868 | The presence of skeletal muscular atrophy (which is also known as amyotrophy). |
| Edema | HP:0000969 | HP:0000990 | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| Abnormal diaphysis morphology | HP:0000940 | HP:0006504 | An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. |
| Elbow flexion contracture | HP:0002987 | HP:0003937,HP:0004984,HP:0005654 | An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. |
| Abnormal skull morphology | HP:0000929 | None | An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. |
| Aplasia/Hypoplasia of the lungs | HP:0006703 | None | None |
| Limited elbow movement | HP:0002996 | HP:0006395 | None |
| Mildly elevated creatine kinase | HP:0008180 | HP:0003211 | None |
| Functional motor deficit | HP:0004302 | None | None |
| Abnormality of the lower limb | HP:0002814 | None | An abnormality of the leg. |
| Abnormality of extrapyramidal motor function | HP:0002071 | HP:0006810,HP:0007113 | A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). |
| Hyperreflexia | HP:0001347 | HP:0001282,HP:0006820,HP:0007184,HP:0007318 | Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. |
| Neonatal hypotonia | HP:0001319 | HP:0006830,HP:0008976 | Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. |
| Severe muscular hypotonia | HP:0006829 | HP:0002347 | A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. |
| Cranial nerve paralysis | HP:0006824 | HP:0001353,HP:0002377 | None |
| Decreased fetal movement | HP:0001558 | HP:0001559,HP:0006840,HP:0007630,HP:0007631 | An abnormal reduction in quantity or strength of fetal movements. |
| Distal amyotrophy | HP:0003693 | HP:0002484,HP:0002934,HP:0003486,HP:0003699,HP:0006786,HP:0006864,HP:0008937,HP:0008958,HP:0009015,HP:0009040,HP:0009065 | Muscular atrophy affecting muscles in the distal portions of the extremities. |
| Abnormality of eye movement | HP:0000496 | HP:0006860 | An abnormality in voluntary or involuntary eye movements or their control. |
| Handgrip myotonia | HP:0012899 | None | Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. |
| Thin ribs | HP:0000883 | None | Ribs with a reduced diameter. |
| Abnormality of the upper limb | HP:0002817 | HP:0003838 | An abnormality of the arm. |
| Death in infancy | HP:0001522 | HP:0003816,HP:0003817,HP:0003818,HP:0003823,HP:0003827 | Death within the first 24 months of life. |
| Neonatal death | HP:0003811 | HP:0003820,HP:0003824 | Death within the first 28 days of life. |
| Abnormality of the elbow | HP:0009811 | HP:0002966 | An anomaly of the joint that connects the upper and the lower arm. |
| Abnormality of upper limb joint | HP:0009810 | None | None |
| Death in childhood | HP:0003819 | HP:0001432,HP:0004149 | Death in during childhood, defined here as between the ages of 2 and 10 years. |
| Late-onset distal muscle weakness | HP:0003810 | HP:0003728 | None |
| Abnormal external genitalia | HP:0000811 | None | None |
| Abnormal muscle tone | HP:0003808 | None | None |
| Type 1 muscle fiber predominance | HP:0003803 | HP:0003721,HP:0003807 | An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). |
| Rimmed vacuoles | HP:0003805 | HP:0009029 | Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. |
| Myopathy | HP:0003198 | HP:0003569,HP:0003705,HP:0003742,HP:0003802 | A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. |
| Limb-girdle muscular dystrophy | HP:0006785 | HP:0009066 | Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders). |
| Hypokinesia | HP:0002375 | HP:0002603,HP:0006795 | Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. |
| Abnormal jaw morphology | HP:0030791 | None | A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. |
| Flexion contracture of finger | HP:0012785 | None | Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. |
| Nemaline bodies | HP:0003798 | None | Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. |
| Limb-girdle muscle atrophy | HP:0003797 | None | Muscular atrophy affecting the muscles of the limb girdle. |
| Myotonia | HP:0002486 | HP:0003632,HP:0003754,HP:0003792 | An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. |
| Muscle fiber cytoplasmatic inclusion bodies | HP:0100303 | HP:0003790 | The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. |
| Abnormality of the urethra | HP:0000795 | None | An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. |
| External genital hypoplasia | HP:0003241 | HP:0000788,HP:0003245 | Underdevelopment of part or all of the external reproductive organs. |
| Neurodevelopmental abnormality | HP:0012759 | None | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| Slowly progressive | HP:0003677 | HP:0003675,HP:0003681 | Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. |
| Neurodevelopmental delay | HP:0012758 | None | Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. |
| Generalized limb muscle atrophy | HP:0009055 | HP:0003788 | Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. |
| Scapular winging | HP:0003691 | HP:0000783 | Abnormal protrusion of the scapula away from the surface of the back. |
| Abnormal scapula morphology | HP:0000782 | None | Any abnormality of the scapula, also known as the shoulder blade. |
| Abnormal sternum morphology | HP:0000766 | HP:0000780,HP:0006586,HP:0006594,HP:0006605,HP:0006630,HP:0006708 | An anomaly of the sternum, also known as the breastbone. |
| Abnormality of the diaphragm | HP:0000775 | HP:0005204 | Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. |
| Abnormal rib morphology | HP:0000772 | HP:0006618 | An anomaly of the rib. |
| Pectus excavatum | HP:0000767 | HP:0006613,HP:0006617 | A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance. |
| Abnormal thorax morphology | HP:0000765 | HP:0100655 | Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). |
| EMG abnormality | HP:0003457 | HP:0002177,HP:0003751,HP:0003753,HP:0100286 | Abnormal results of investigations using electromyography (EMG). |
| Functional abnormality of the gastrointestinal tract | HP:0012719 | None | Abnormal functionality of the gastrointestinal tract. |
| Abnormal skeletal muscle morphology | HP:0011805 | HP:0003735 | A structural abnormality of a skeletal muscle. |
| Muscle fiber necrosis | HP:0003713 | HP:0003726 | Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. |
| Generalized muscle weakness | HP:0003324 | HP:0003686,HP:0003723 | Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. |
| Neck flexor weakness | HP:0003722 | HP:0000469 | Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). |
| Myofibrillar myopathy | HP:0003715 | None | Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. |
| EMG: myopathic abnormalities | HP:0003458 | HP:0003322,HP:0003711,HP:0009021 | The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. |
| Bulbar palsy | HP:0001283 | HP:0003441,HP:0003709 | Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. |
| Abnormality of the musculature | HP:0003011 | HP:0003197,HP:0003708,HP:0040290 | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| Abnormal muscle fiber morphology | HP:0004303 | HP:0003706,HP:0011806 | Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. |
| Proximal muscle weakness | HP:0003701 | HP:0003432,HP:0003475,HP:0007195,HP:0008950,HP:0008961,HP:0008975,HP:0009033,HP:0009075 | A lack of strength of the proximal muscles. |
| Generalized amyotrophy | HP:0003700 | HP:0008977,HP:0008987,HP:0008996,HP:0009043,HP:0009052,HP:0009068,HP:0009074 | Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. |
| Abnormal cardiovascular system morphology | HP:0030680 | HP:0001632,HP:0002564,HP:0002565 | Any structural anomaly of the heart and blood vessels. |
| Antenatal onset | HP:0030674 | None | Onset prior to birth. |
| Shoulder girdle muscle weakness | HP:0003547 | HP:0003695,HP:0009009 | The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. |
| Limb muscle weakness | HP:0003690 | HP:0002534 | Reduced strength and weakness of the muscles of the arms and legs. |
| Tooth malposition | HP:0000692 | HP:0000693,HP:0001569,HP:0006303,HP:0006478 | Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. |
| Centrally nucleated skeletal muscle fibers | HP:0003687 | None | 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). |
| Progressive | HP:0003676 | None | Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. |
| Onset | HP:0003674 | HP:0003588,HP:0003590,HP:0003597,HP:0003602,HP:0003603,HP:0003618,HP:0003626,HP:0003628,HP:0003630,HP:0003663,HP:0003664,HP:0003668,HP:0011007 | The age group in which disease manifestations appear. |
| Infantile onset | HP:0003593 | HP:0003576,HP:0003579,HP:0003591,HP:0003594,HP:0003599,HP:0003600,HP:0003629,HP:0003631,HP:0003667,HP:0003672,HP:0010573 | Onset of signs or symptoms of disease between 28 days to one year of life. |
| Dental crowding | HP:0000678 | None | Changes in alignment of teeth in the dental arch |
| Abnormal nervous system physiology | HP:0012638 | None | A functional anomaly of the nervous system. |
| Abnormal nervous system morphology | HP:0012639 | None | A structural anomaly of the nervous system. |
| Adult onset | HP:0003581 | HP:0003585,HP:0003598,HP:0003627,HP:0003662,HP:0003669 | Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. |
| Congenital onset | HP:0003577 | HP:0003595,HP:0003601,HP:0003624,HP:0003660,HP:0003666 | A phenotypic abnormality that is present at birth. |
| Neonatal onset | HP:0003623 | HP:0003622 | Onset of signs or symptoms of disease within the first 28 days of life. |
| Ophthalmoplegia | HP:0000602 | None | Paralysis of one or more extraocular muscles that are responsible for eye movements. |
| Respiratory insufficiency | HP:0002093 | HP:0004893,HP:0005937,HP:0006542 | None |
| Abnormality of the ear | HP:0000598 | None | An abnormality of the ear. |
| Ophthalmoparesis | HP:0000597 | HP:0007701,HP:0008044 | Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. |
| Increased variability in muscle fiber diameter | HP:0003557 | HP:0003556 | An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. |
| Muscle fiber splitting | HP:0003555 | None | Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. |
| Muscle stiffness | HP:0003552 | HP:0009014 | A condition in which muscles cannot be moved quickly without accompanying pain or spasm. |
| Difficulty climbing stairs | HP:0003551 | HP:0007019 | Reduced ability to climb stairs. |
| Abnormality of connective tissue | HP:0003549 | None | Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). |
| Exercise intolerance | HP:0003546 | None | A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. |
| Elevated circulating creatine kinase concentration | HP:0003236 | HP:0002147,HP:0002906,HP:0003078,HP:0003525,HP:0003531,HP:0008164 | An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. |
| Tall stature | HP:0000098 | HP:0001527,HP:0003515,HP:0003516 | A height above that which is expected according to age and gender norms. |
| Ptosis | HP:0000508 | None | The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). |
| Bowing of the long bones | HP:0006487 | HP:0002976,HP:0005087,HP:0005908,HP:0006404,HP:0006451,HP:0006452 | A bending or abnormal curvature of a long bone. |
| Ankle flexion contracture | HP:0006466 | HP:0004985,HP:0006403 | None |
| Achilles tendon contracture | HP:0001771 | HP:0004711,HP:0005031,HP:0006430 | A contracture of the Achilles tendon. |
| Bowing of the legs | HP:0002979 | HP:0006428 | A bending or abnormal curvature affecting a long bone of the leg. |
| Tube feeding | HP:0033454 | None | Feeding problem necessitating food and nutrient delivery via a tube. |
| Joint contracture of the hand | HP:0009473 | HP:0001160,HP:0001237,HP:0004094,HP:0005814,HP:0006096,HP:0006173,HP:0006215,HP:0006238,HP:0006255,HP:0009409,HP:0009472,HP:0010563 | Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. |
| Abnormal eye morphology | HP:0012372 | HP:0000489,HP:0012374 | A structural anomaly of the globe of the eye, or bulbus oculi. |
| Upper limb muscle weakness | HP:0003484 | None | Weakness of the muscles of the arms. |
| Abnormal brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Fatigable weakness | HP:0003473 | HP:0003399,HP:0003428,HP:0100794 | A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. |
| Upper limb amyotrophy | HP:0009129 | HP:0003471 | Muscular atrophy involving the muscles of the upper limbs. |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Torticollis | HP:0000473 | None | Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. |
| Short neck | HP:0000470 | HP:0005992,HP:0200137 | Diminished length of the neck. |
| Neck muscle weakness | HP:0000467 | None | Decreased strength of the neck musculature. |
| Abnormal blood gas level | HP:0012415 | None | An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. |
| EMG: neuropathic changes | HP:0003445 | HP:0002178,HP:0002547,HP:0007279 | The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). |
| Kyphoscoliosis | HP:0002751 | HP:0003412,HP:0003424,HP:0004593,HP:0005728 | An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. |
| Scoliosis | HP:0002650 | HP:0002770,HP:0003303,HP:0003317,HP:0003415 | The presence of an abnormal lateral curvature of the spine. |
| Weakness of facial musculature | HP:0030319 | None | Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). |
| Lower extremity joint dislocation | HP:0030311 | None | Displacement or malalignment of one or more joints in the lower extremity (leg). |
| Knee flexion contracture | HP:0006380 | HP:0002978 | A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. |
| Abnormality of the dentition | HP:0000164 | HP:0001567,HP:0006296,HP:0006348 | Any abnormality of the teeth. |
| Micrognathia | HP:0000347 | HP:0000210,HP:0000330,HP:0000345,HP:0002005,HP:0002674,HP:0004669,HP:0005460,HP:0005470 | Developmental hypoplasia of the mandible. |
| Facial palsy | HP:0010628 | HP:0000296,HP:0000302,HP:0000344,HP:0000353,HP:0002008,HP:0002259,HP:0002517,HP:0004670,HP:0007212,HP:0200004 | Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. |
| Abnormal homeostasis | HP:0012337 | None | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| Fatigue | HP:0012378 | None | A subjective feeling of tiredness characterized by a lack of energy and motivation. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Abnormal synaptic transmission at the neuromuscular junction | HP:0003398 | None | Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. |
| Gowers sign | HP:0003391 | None | A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. |
| Easy fatigability | HP:0003388 | None | Increased susceptibility to fatigue. |
| Foot dorsiflexor weakness | HP:0009027 | HP:0003377 | Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. |
| Abnormal location of ears | HP:0000357 | None | Abnormal location of the ear. |
| Abnormality of the outer ear | HP:0000356 | HP:0001752 | An abnormality of the external ear. |
| Abnormality of the immune system | HP:0002715 | HP:0003257,HP:0003346,HP:0010986 | An abnormality of the immune system. |
| Long philtrum | HP:0000343 | None | Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. |
| Long face | HP:0000276 | HP:0000334 | Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). |
| Mandibular prognathia | HP:0000303 | HP:0000251,HP:0000279,HP:0000328,HP:0002051,HP:0004648,HP:0004656,HP:0008514 | Abnormal prominence of the chin related to increased length of the mandible. |
| Axial muscle weakness | HP:0003327 | None | Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). |
| Limb-girdle muscle weakness | HP:0003325 | HP:0008971 | Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. |
| Progressive muscle weakness | HP:0003323 | HP:0009032 | None |
| Abnormality of the cervical spine | HP:0003319 | HP:0004587 | Any abnormality of the cervical vertebral column. |
| Kyphosis | HP:0002808 | HP:0002769,HP:0003314 | Exaggerated anterior convexity of the thoracic vertebral column. |
| Narrow face | HP:0000275 | HP:0000318 | Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). |
| Hyperlordosis | HP:0003307 | HP:0002939 | Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. |
| Spinal rigidity | HP:0003306 | None | Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. |
| Abnormality of the chin | HP:0000306 | None | An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. |
| Abnormality of facial musculature | HP:0000301 | None | An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). |
| Abnormality of muscle size | HP:0030236 | None | Abnormalities of the overall muscle bulk based on clinical observation. |
| Fatiguable weakness of proximal limb muscles | HP:0030200 | None | A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. |
| Abnormal hip bone morphology | HP:0003272 | None | An abnormality of the hip bone. |
| Hip contracture | HP:0003273 | None | Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. |
| Mask-like facies | HP:0000298 | None | A lack of facial expression often with staring eyes and a slightly open mouth. |
| Abnormal respiratory system morphology | HP:0012252 | None | A structural anomaly of the respiratory system. |
| Abnormality of the philtrum | HP:0000288 | HP:0011216 | An abnormality of the philtrum. |
| Abnormal reproductive system morphology | HP:0012243 | None | A structural or developmental anomaly of any of the tissues involved in the genital system. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Abnormal mandible morphology | HP:0000277 | HP:0000209 | Any abnormality of the mandible, the bone of the lower jaw. |
| Retrognathia | HP:0000278 | HP:0002053,HP:0002954 | An abnormality in which the mandible is mislocalised posteriorly. |
| Small face | HP:0000274 | None | A face that is short and narrow. |
| Headache | HP:0002315 | HP:0000266,HP:0001354 | Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| High palate | HP:0000218 | HP:0000156,HP:0009080,HP:0009082,HP:0009097 | 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). |
| Fatigable weakness of distal limb muscles | HP:0030198 | None | A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. |
| Abnormal peripheral nervous system synaptic transmission | HP:0030191 | None | An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. |
| Fatigable weakness of bulbar muscles | HP:0030192 | None | A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. |
| Fatigable weakness of respiratory muscles | HP:0030196 | None | A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. |
| Fatigable weakness of skeletal muscles | HP:0030197 | None | A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. |
| Abnormality of blood and blood-forming tissues | HP:0001871 | HP:0003135 | An abnormality of the hematopoietic system. |
| Abnormality of the cardiovascular system | HP:0001626 | HP:0003116 | Any abnormality of the cardiovascular system. |
| Limb joint contracture | HP:0003121 | HP:0005631,HP:0005839 | A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. |
| Craniofacial dystonia | HP:0012179 | None | A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. |
| Narrow palate | HP:0000189 | None | Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). |
| Abnormal upper lip morphology | HP:0000177 | None | An abnormality of the upper lip. |
| Abnormal palate morphology | HP:0000174 | None | Any abnormality of the palate, i.e., of roof of the mouth. |
| Abnormal oral cavity morphology | HP:0000163 | None | Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. |
| Abnormal lip morphology | HP:0000159 | None | An abnormality of the lip. |
| Abnormality of the mouth | HP:0000153 | None | An abnormality of the mouth. |
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Abnormality of the musculature of the limbs | HP:0009127 | None | None |
| Aplasia/hypoplasia affecting bones of the axial skeleton | HP:0009122 | None | Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. |
| Abnormal axial skeleton morphology | HP:0009121 | None | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| Aplasia/Hypoplasia of the mandible | HP:0009118 | None | Absence or underdevelopment of the mandible. |
| Aplasia/Hypoplasia involving bones of the skull | HP:0009116 | None | None |
| Aplasia/hypoplasia involving the skeleton | HP:0009115 | None | Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. |
| Abnormality of the genitourinary system | HP:0000119 | HP:0008658,HP:0008688,HP:0008704,HP:0008713 | The presence of any abnormality of the genitourinary system. |
| Phenotypic abnormality | HP:0000118 | None | A phenotypic abnormality. |
| Limitation of joint mobility | HP:0001376 | HP:0003101 | A reduction in the freedom of movement of one or more joints. |
| Abnormal heart morphology | HP:0001627 | HP:3000001 | Any structural anomaly of the heart. |
| Abnormal finger morphology | HP:0001167 | HP:0003035 | An anomaly of a finger. |
| Genu varum | HP:0002970 | HP:0003052 | A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. |
| Hamstring contractures | HP:0003089 | None | None |
| Abnormality of skeletal muscle fiber size | HP:0012084 | None | Any abnormality of the size of the skeletal muscle cell. |
| Abnormality of the urinary system | HP:0000079 | None | An abnormality of the urinary system. |
| Abnormality of the genital system | HP:0000078 | None | An abnormality of the genital system. |
| Muscle weakness | HP:0001324 | HP:0002309,HP:0008979,HP:0009012,HP:0009061 | Reduced strength of muscles. |
| Increased muscle lipid content | HP:0009058 | HP:0100949 | An abnormal accumulation of lipids in skeletal muscle. |
| Micropenis | HP:0000054 | HP:0000038 | Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. |
| Hypoplastic male external genitalia | HP:0000050 | HP:0008710,HP:0008721 | Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). |
| Hypoplasia of the musculature | HP:0009004 | HP:0009034 | Underdevelopment of the musculature. |
| Clinical course | HP:0031797 | None | The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. |
| Difficulty walking | HP:0002355 | HP:0007101,HP:0009030 | Reduced ability to walk (ambulate). |
| Increased connective tissue | HP:0009025 | None | The presence of an abnormally increased amount of connective tissue. |
| Abnormal penis morphology | HP:0000036 | None | Abnormality of the male external sex organ. |
| Abnormal male external genitalia morphology | HP:0000032 | None | Any structural abnormality of male external genitalia. |
| Abnormality of the ankle | HP:0003028 | None | An anomaly of the joint that connects the foot with the leg. |
| Autosomal dominant inheritance | HP:0000006 | HP:0001415,HP:0001447,HP:0001448,HP:0001451,HP:0001452,HP:0001455,HP:0001456,HP:0001463 | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| Mode of inheritance | HP:0000005 | HP:0001425,HP:0001453,HP:0001461,HP:0010985 | The pattern in which a particular genetic trait or disorder is passed from one generation to the next. |
| Abnormality of body height | HP:0000002 | None | Deviation from the norm of height with respect to that which is expected according to age and gender norms. |
| All | HP:0000001 | None | None |
| Abnormality of globe location | HP:0100886 | None | An abnormality in the placement of the ocular globe (eyeball). |
| Large face | HP:0100729 | None | None |
| Abnormal long bone morphology | HP:0011314 | HP:0100713,HP:0100714,HP:0100715 | An abnormality of size or shape of the long bones. |
| Abnormal thoracic spine morphology | HP:0100711 | None | An abnormality of the thoracic vertebral column. |
| Abnormal cranial nerve physiology | HP:0031910 | None | A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. |
| Abnormality of immune system physiology | HP:0010978 | None | A functional abnormality of the immune system. |
| Abnormality of the lower urinary tract | HP:0010936 | None | An abnormality of the lower urinary tract. |
| Abnormal facial shape | HP:0001999 | HP:0002004,HP:0002260,HP:0004643,HP:0004649,HP:0004652,HP:0004655,HP:0004675,HP:0005124 | An abnormal morphology (form) of the face or its components. |
| Genu valgum | HP:0002857 | HP:0004999 | The legs angle inward, such that the knees are close together and the ankles far apart. |
| Fetal akinesia sequence | HP:0001989 | None | Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). |
| Abnormal cerebral vascular morphology | HP:0100659 | None | An anomaly of the cerebral blood vessels. |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0002146,HP:0004355,HP:0004367 | None |
| Displacement of the urethral meatus | HP:0100627 | None | A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). |
| Abnormal oral morphology | HP:0031816 | None | Any structural anomaly of the mouth, which is also known as the oral cavity. |
| Abnormal oral physiology | HP:0031815 | None | A functional anomaly of the mouth (which is also known as the oral cavity). |
| Abnormal reflex | HP:0031826 | None | Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). |
| Abnormal circulating protein concentration | HP:0010876 | None | An abnormal level of a circulating protein in the blood. |
| Hypoventilation | HP:0002791 | HP:0004892 | A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). |
| Abnormal bleeding | HP:0001892 | HP:0004830,HP:0004834,HP:0004849,HP:0004862,HP:0004865,HP:0008183 | An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. |
| Talipes | HP:0001883 | None | A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. |
| Respiratory insufficiency due to muscle weakness | HP:0002747 | HP:0004882,HP:0004888 | None |
| Respiratory failure requiring assisted ventilation | HP:0004887 | HP:0004883 | A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. |
| Intercostal muscle weakness | HP:0004878 | None | Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. |
| Respiratory failure | HP:0002878 | HP:0004877 | A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. |
| Abnormal seventh cranial physiology | HP:0010827 | None | Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. |
| Weight loss | HP:0001824 | None | Reduction of total body weight. |
| Decreased body weight | HP:0004325 | HP:0001823,HP:0001826 | Abnormally low body weight. |
| Abnormal ear morphology | HP:0031703 | None | Any structural anomaly of the ear. |
| Abnormality of lower limb joint | HP:0100491 | HP:0100239 | None |
| Abnormal delivery | HP:0001787 | None | An abnormality of the birth process. |
| Pes cavus | HP:0001761 | HP:0008075 | An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). |
| Abnormal foot morphology | HP:0001760 | HP:0010216,HP:0010611 | An abnormality of the skeleton of foot. |
| Arrhythmia | HP:0011675 | HP:0001656,HP:0001661,HP:0001665,HP:0001666,HP:0001675,HP:0001687,HP:0001721,HP:0004351,HP:0005158 | Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. |
| Dilated cardiomyopathy | HP:0001644 | HP:0001725,HP:0005159,HP:0200130 | Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. |
| Abnormal cardiac ventricle morphology | HP:0001713 | None | An abnormality of a cardiac ventricle. |
| Abnormal right ventricle morphology | HP:0001707 | None | An abnormality of the right ventricle of the heart. |
| Upper-limb joint contracture | HP:0100360 | None | A limitation in the passive range of motion of a joint of the upper limb 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. |
| Subdural hemorrhage | HP:0100309 | None | Hemorrhage occurring between the dura mater and the arachnoid mater. |
| Finger joint contracture | HP:0034681 | None | Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. |
| Ankle contracture | HP:0034677 | None | None |
| Abnormal ankle morphology | HP:0034673 | None | A structural anomaly of the ankle. |
| Knee contracture | HP:0034671 | None | Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. |
| Abnormal knee morphology | HP:0034669 | None | A structural abnormality of the knee joint or surrounding structures. |
| Abnormal neck morphology | HP:0025668 | None | Any structural anomaly of the neck region. |
| Abnormal curvature of the vertebral column | HP:0010674 | None | The presence of an abnormal curvature of the vertebral column. |
| Decreased facial expression | HP:0004673 | None | A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. |
| Bradycardia | HP:0001662 | None | A slower than normal heart rate (in adults, slower than 60 beats per minute). |
| Myopathic facies | HP:0002058 | HP:0004647 | A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. |
| Cor pulmonale | HP:0001648 | None | Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. |
| Cerebral hemorrhage | HP:0001342 | HP:0002137 | Hemorrhage into the parenchyma of the brain. |
| Chylothorax | HP:0010310 | None | Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. |
| Cardiomyopathy | HP:0001638 | None | A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. |
| Abnormal myocardium morphology | HP:0001637 | None | A structural anomaly of the muscle layer of the heart wall. |
| Prenatal movement abnormality | HP:0001557 | HP:0007629 | An abnormality of fetal movement. |
| Breech presentation | HP:0001623 | None | A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. |
| Premature birth | HP:0001622 | None | The birth of a baby of less than 37 weeks of gestational age. |
| Hoarse voice | HP:0001609 | HP:0001613,HP:0001619 | Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. |
| Thoracic scoliosis | HP:0002943 | HP:0004615 | None |
| Abnormality of the voice | HP:0001608 | None | None |
| Cardiac conduction abnormality | HP:0031546 | None | Any anomaly of the progression of electrical impulses through the heart. |
| Increased endomysial connective tissue | HP:0100297 | None | 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. |
| Muscle fiber inclusion bodies | HP:0100299 | None | None |
| Muscle fiber atrophy | HP:0100295 | HP:0100294 | None |
| Abnormal tendon morphology | HP:0100261 | None | An abnormality of the structure or form of the tendons, also often called sinews. |
| Thoracic hypoplasia | HP:0005257 | HP:0001590 | None |
| Polyhydramnios | HP:0001561 | HP:0005098 | The presence of excess amniotic fluid in the uterus during pregnancy. |
| Abnormality of the amniotic fluid | HP:0001560 | None | Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. |
| Abnormal rib cage morphology | HP:0001547 | None | A morphological anomaly of the rib cage. |
| Slender build | HP:0001533 | HP:0001529 | Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. |
| Edema of the dorsum of hands | HP:0007514 | HP:0007528 | An abnormal accumulation of fluid beneath the skin on the back of the hands. |
| Growth abnormality | HP:0001507 | HP:0008904 | None |
| Abnormality of the male genitalia | HP:0010461 | None | Abnormality of the male genital system. |
| Abnormal joint physiology | HP:0034430 | None | None |
| Aplasia/Hypoplasia involving the skeletal musculature | HP:0001460 | None | Absence or underdevelopment of the musculature. |
| Abnormality of the musculature of the upper limbs | HP:0001446 | None | None |
| Abnormality of the shoulder girdle musculature | HP:0001435 | HP:0004301 | None |
| Abnormality of the musculature of the hand | HP:0001421 | None | None |
| Weakness of muscles of respiration | HP:0004347 | None | Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. |
| Focal dystonia | HP:0004373 | HP:0007140 | A type of dystonia that is localized to a specific part of the body. |
| Poor appetite | HP:0004396 | None | A reduced desire to eat. |
| Joint contracture | HP:0034392 | None | 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. |
| Elbow contracture | HP:0034391 | None | 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. |
| Abnormal muscle tissue metabolite concentration | HP:0034370 | None | None |
| Mendelian inheritance | HP:0034345 | None | A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel. |
| Delayed ability to sit | HP:0025336 | None | A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. |
| Arthrogryposis multiplex congenita | HP:0002804 | HP:0001389,HP:0001390,HP:0002759,HP:0005188,HP:0005663,HP:0005809,HP:0005859 | Multiple congenital contractures in different body areas. |
| Hip dysplasia | HP:0001385 | HP:0008787 | The presence of developmental dysplasia of the hip. |
| Abnormal hip joint morphology | HP:0001384 | None | An abnormality of the hip joint. |
| Flexion contracture | HP:0001371 | HP:0001372,HP:0001381,HP:0005053,HP:0005189,HP:0005660 | 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. |
| Hip dislocation | HP:0002827 | HP:0001375 | Displacement of the femur from its normal location in the hip joint. |
| Congenital hip dislocation | HP:0001374 | None | None |
| Joint dislocation | HP:0001373 | HP:0002772,HP:0005837 | Displacement or malalignment of joints. |
| Abnormal joint morphology | HP:0001367 | None | An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. |
| Facial diplegia | HP:0001349 | HP:0005334,HP:0007085 | Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). |
| Dystonia | HP:0001332 | HP:0002328 | An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. |
| Morphological central nervous system abnormality | HP:0002011 | HP:0002405,HP:0002413,HP:0002481,HP:0007319 | A structural abnormality of the central nervous system. |
| Reduced tendon reflexes | HP:0001315 | HP:0001316 | Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. |
| Areflexia | HP:0001284 | HP:0001314 | Absence of neurologic reflexes such as the knee-jerk reaction. |
| Nasogastric tube feeding | HP:0040288 | None | The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. |
| Abnormal esophagus physiology | HP:0025270 | None | Any physiological abnormality of the esophagus. |
| Generalized hypotonia | HP:0001290 | None | Generalized muscular hypotonia (abnormally low muscle tone). |
| Hypertonia | HP:0001276 | HP:0002388 | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| Hyporeflexia | HP:0001265 | HP:0002467 | Reduction of neurologic reflexes such as the knee-jerk reaction. |
| Second trimester onset | HP:0034198 | None | This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). |
| Wrist drop | HP:0031189 | None | A condition in which the affected individual cannot extend the wrist, which hangs flaccidly. |
| Constitutional symptom | HP:0025142 | None | A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. |
| Abnormal thumb morphology | HP:0001172 | None | An abnormal structure of the first digit of the hand. |
| Abnormality of the hand | HP:0001155 | HP:0005858 | An abnormality affecting one or both hands. |
| Distal upper limb amyotrophy | HP:0007149 | None | Muscular atrophy of distal arm muscles. |
| Abnormal circulating creatine kinase concentration | HP:0040081 | None | Any deviation from the normal circulating creatine kinase concentration. |
| Abnormality of limb bone | HP:0040068 | None | None |
| Abnormality of limbs | HP:0040064 | None | None |
| Abnormal lung development | HP:4000059 | None | A structural defect associated with abnormal development of the lung. |
| Mortality/Aging | HP:0040006 | None | None |
| Abnormal blood oxygen level | HP:0500165 | None | An abnormality of the partial pressure of oxygen in the arterial blood. |
| Abnormal blood carbon dioxide level | HP:0500164 | None | An abnormality of carbon dioxide (CO2) in the arterial blood. |
| Abnormal fetal physiology | HP:0034059 | None | Any functional anomaly of the fetus. |
| Abnormality of digestive system physiology | HP:0025032 | None | A functional anomaly of the digestive system. |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Abnormal vascular morphology | HP:0025015 | None | None |
| Poor fine motor coordination | HP:0007010 | None | An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. |
| Pediatric onset | HP:0410280 | None | Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. |
| Delayed ability to roll over | HP:0032989 | None | Delayed achievement of the ability to roll front to back and back to front. |
| Respiratory tract infection | HP:0011947 | None | An infection of the upper or lower respiratory tract. |
| Aspiration pneumonia | HP:0011951 | None | Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. |
| Feeding difficulties | HP:0011968 | None | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| Abnormality of the calf | HP:0002981 | None | An abnormality of the calf, i.e. of the posterior part of the lower leg. |
| Recurrent infections | HP:0002719 | HP:0002957,HP:0002964,HP:0005405 | Increased susceptibility to infections. |
| Abnormal respiratory system physiology | HP:0002795 | HP:0005952 | None |
| Increased susceptibility to fractures | HP:0002659 | HP:0002662,HP:0002798,HP:0005710,HP:0005783,HP:0005931 | An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. |
| Multiple prenatal fractures | HP:0005855 | HP:0002811,HP:0005761 | The presence of bone fractures in the prenatal period that are diagnosed at birth or before. |
| Respiratory distress | HP:0002098 | HP:0002880 | Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. |
| Feeding difficulties in infancy | HP:0008872 | HP:0002016,HP:0002022,HP:0002568 | Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. |
| Abnormal appendicular skeleton morphology | HP:0011844 | None | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| Abnormal musculoskeletal physiology | HP:0011843 | None | An abnormality of the function of the skeletal system. |
| Nocturnal hypoventilation | HP:0002877 | None | An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide. |
| Recurrent respiratory infections | HP:0002205 | HP:0002782,HP:0002873 | An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. |
| Abnormal skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormal facial skeleton morphology | HP:0011821 | None | An abnormality of one or more of the set of bones that make up the facial skeleton. |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| Type 1 muscle fiber atrophy | HP:0011807 | None | Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. |
| Abnormality of the knee | HP:0002815 | None | An abnormality of the knee joint or surrounding structures. |
| Abnormal limb bone morphology | HP:0002813 | None | Any abnormality of bones of the arms or legs. |
| Congenital contracture | HP:0002803 | None | One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. |
| Lower-limb joint contracture | HP:0005750 | None | A limitation in the passive range of motion of a joint of the lower limb 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. |
| Abnormality of facial soft tissue | HP:0011799 | None | None |
| Abnormal pattern of respiration | HP:0002793 | None | An anomaly of the rhythm or depth of breathing. |
| Abnormality of joint mobility | HP:0011729 | None | An abnormality in the range and ease of motion of joints across their normal range. |
| Hypoplasia of penis | HP:0008736 | HP:0008632 | None |
| High, narrow palate | HP:0002705 | None | The presence of a high and narrow palate. |
| Positional foot deformity | HP:0005656 | None | A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. |
| Abnormal pelvic girdle bone morphology | HP:0002644 | None | An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. |
| Abnormality of the vasculature | HP:0002597 | None | An abnormality of the vasculature. |
| Dysphagia | HP:0002015 | HP:0002569 | Difficulty in swallowing. |
| Gastrostomy tube feeding in infancy | HP:0011471 | None | Feeding problem necessitating gastrostomy tube feeding. |
| Nasogastric tube feeding in infancy | HP:0011470 | None | Feeding problem necessitating nasogastric tube feeding. |
| Young adult onset | HP:0011462 | None | Onset of disease at the age of between 16 and 40 years. |
| Fetal onset | HP:0011461 | None | Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). |
| Abdominal symptom | HP:0011458 | None | A subjective manifestation of disease localized to the abdomen. |
| Bulbar signs | HP:0002483 | None | None |
| Abnormality of coordination | HP:0011443 | None | None |
| Abnormality of mental function | HP:0011446 | None | Cognitive, psychiatric, or memory anomaly. |
| Abnormal central motor function | HP:0011442 | None | An anomaly of the control or production of movement in the central nervous system. |
| Age of death | HP:0011420 | None | The age group when the cessation of life happens. |
| Poor head control | HP:0002421 | None | Difficulty to maintain correct position of the head while standing or sitting. |
| Abnormal facial expression | HP:0005346 | None | None |
| Diminished movement | HP:0002374 | None | None |
| Sleep abnormality | HP:0002360 | None | An abnormal pattern in the quality, quantity, or characteristics of sleep. |
| Abnormality of fontanelles | HP:0011328 | None | An abnormality of the fontanelle. |
| Frequent falls | HP:0002359 | None | None |
| Clumsiness | HP:0002312 | None | Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. |
| Incoordination | HP:0002311 | HP:0002276 | None |
| Abnormal tissue metabolite concentration | HP:0032243 | None | Any deviation from the normal concentration of a metabolite in a tissue. |
| Abnormal digit morphology | HP:0011297 | None | A morphological abnormality of a digit, i.e., of a finger or toe. |
| Poor motor coordination | HP:0002275 | None | None |
| Impaired mastication | HP:0005216 | None | An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. |
| Pleural effusion | HP:0002202 | None | The presence of an excessive amount of fluid in the pleural cavity. |
| Abnormal circulating metabolite concentration | HP:0032180 | None | An abnormal level of an analyte measured in the blood. |
| Unusual infection | HP:0032101 | None | A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. |
| Intracranial hemorrhage | HP:0002170 | None | Hemorrhage occurring within the skull. |
| Abnormality of the Achilles tendon | HP:0005109 | None | An abnormality of the Achilles tendon. |
| Abnormal pleura morphology | HP:0002103 | None | An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. |
| Abnormal male urethral meatus morphology | HP:0032076 | None | None |
| Dyspnea | HP:0002094 | None | Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. |
| Pneumonia | HP:0002090 | None | Inflammation of any part of the lung parenchyma. |
| Pulmonary hypoplasia | HP:0002089 | None | None |
| Abnormal lung morphology | HP:0002088 | None | Any structural anomaly of the lung. |
| Abnormality of the respiratory system | HP:0002086 | None | An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. |
| Neuromuscular dysphagia | HP:0002068 | None | None |
| Bradykinesia | HP:0002067 | None | Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). |
| Abnormality of fluid regulation | HP:0011032 | None | An abnormality of the regulation of body fluids. |
| Abnormality of the gastrointestinal tract | HP:0011024 | None | An abnormality of the gastrointestinal tract. |
| Internal hemorrhage | HP:0011029 | None | The presence of hemorrhage within the body. |
| Abnormal cardiovascular system physiology | HP:0011025 | None | Abnormal functionality of the cardiovascular system. |
| Abnormality of blood circulation | HP:0011028 | None | An abnormality of blood circulation. |
| Abnormal circulating enzyme concentration | HP:0011021 | None | The concentration or activity of an enzyme in the blood circulation is outside of the limits of the normal range. |
| Abnormal morphology of the musculature of the neck | HP:0011006 | None | An abnormality of the neck musculature. |
| Muscular dystrophy | HP:0003560 | HP:0003544,HP:0003741,HP:0003793,HP:0003806,HP:0007081 | 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. |
| Clinical modifier | HP:0012823 | HP:0000004 | This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. |
| Pelvic girdle muscle weakness | HP:0003749 | HP:0003692,HP:0008999,HP:0009036 | Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. |
| Autophagic vacuoles | HP:0003736 | None | The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue. |
| Abnormal muscle fiber-type distribution | HP:0033684 | None | Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types |
| Hypertelorism | HP:0000316 | HP:0000578,HP:0002001,HP:0004657,HP:0007871 | Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). |
| Abnormal synaptic transmission | HP:0012535 | None | An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. |
| Low-set ears | HP:0000369 | None | Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. |
| Abnormal pinna morphology | HP:0000377 | HP:0000390,HP:0000398,HP:0004465,HP:0008562,HP:0008566,HP:0008567,HP:0008572,HP:0008580,HP:0008582,HP:0008594,HP:0008602,HP:0040111 | An abnormality of the pinna, which is also referred to as the auricle or external ear. |
| Large fontanelles | HP:0000239 | HP:0004473 | In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. |
| Abnormality of the fontanelles or cranial sutures | HP:0000235 | None | Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). |
| Abnormality of the musculoskeletal system | HP:0033127 | None | An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. |
| Hypospadias | HP:0000047 | None | Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. |
| Autosomal recessive inheritance | HP:0000007 | HP:0001416,HP:0001526,HP:0031362 | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| Foot joint contracture | HP:0008366 | HP:0100492 | Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue. |
| Talipes equinovarus | HP:0001762 | None | Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. |
| Failure to thrive | HP:0001508 | HP:0001535,HP:0008853,HP:0008878,HP:0008916 | Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. |
| Abnormality of movement | HP:0100022 | HP:0001294 | An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. |
| Hypotonia | HP:0001252 | HP:0011398 | 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. |
| Adducted thumb | HP:0001181 | HP:0005646 | In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. |
| Fetal anomaly | HP:0034057 | None | Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. |
| Reduced vital capacity | HP:0002792 | None | An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. |
| Waddling gait | HP:0002515 | None | Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. |
| Rigidity | HP:0002063 | None | Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. |