| HP:0000006 | Autosomal dominant inheritance | "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." [HPO:curators] |
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| HP:0000012 | Urinary urgency | |
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| HP:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000238 | Hydrocephalus | |
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| HP:0000271 | Abnormality of the face | |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000368 | Low-set, posteriorly rotated ears | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000470 | Short neck | |
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| HP:0000473 | Torticollis | |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000540 | Hypermetropia | |
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| HP:0000763 | Sensory neuropathy | "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators] |
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| HP:0000768 | Pectus carinatum | "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators] |
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| HP:0000772 | Abnormality of the ribs | |
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| HP:0000774 | Narrow chest | |
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| HP:0000926 | Platyspondyly | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001270 | Motor retardation | |
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| HP:0001284 | Areflexia | |
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| HP:0001288 | Gait disturbance | "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." [HPO:curators] |
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| HP:0001371 | Contractures | |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001385 | Hip dysplasia | |
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| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0001498 | Carpal bone hypoplasia | |
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| HP:0001547 | Abnormality of the morphology or size of the rib cage | |
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| HP:0001552 | Barrel-shaped chest | |
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| HP:0001558 | Decreased fetal movement | "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
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| HP:0001604 | Vocal cord paresis | |
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| HP:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
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| HP:0001761 | Pes cavus | |
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| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 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. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0001765 | Hammer toes | |
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| HP:0001840 | Metatarsus varus | "Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc s (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline." [HPO:curators] |
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| HP:0001857 | Hypoplastic distal phalanges (feet) | |
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| HP:0001989 | Early severe fetal akinesia sequence | |
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| HP:0002136 | Broad-based gait | "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators] |
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| HP:0002176 | Spinal cord compression | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002515 | Waddling gait | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002655 | Spondyloepiphyseal dysplasia | |
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| HP:0002656 | Epiphyseal dysplasia | |
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| HP:0002657 | Spondylometaphyseal dysplasia | |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0002766 | Relatively short spine | |
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| HP:0002804 | Arthrogryposis multiplex congenita | |
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| HP:0002808 | Kyphosis | |
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| HP:0002810 | Dumbbell-shaped metaphyses | |
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| HP:0002812 | Coxa vara | |
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| HP:0002822 | Hyperplastic femoral trochanters | |
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| HP:0002825 | Caudal appendage | "The presence of a tail-like skin appendage located adjacent to the sacrum." [HPO:probinson] |
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| HP:0002826 | Halberd-shaped pelvis | |
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| HP:0002831 | Long coccyx | |
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| HP:0002834 | Flared femurs and humeri | |
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| HP:0002857 | Genu valgum | |
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| HP:0002870 | Obstructive sleep apnea | "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." [HPO:curators] |
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| HP:0002878 | Early respiratory failure | |
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| HP:0002879 | Anisospondyly | |
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| HP:0002936 | Distal sensory impairment | |
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| HP:0002983 | Micromelia | |
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| HP:0002987 | Elbow contractures | |
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| HP:0003015 | Metaphyseal flaring | "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] |
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| HP:0003037 | Enlarged joints | |
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| HP:0003040 | Arthropathy | |
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| HP:0003103 | Abnormality of cortical bone | "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [HPO:curators] |
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| HP:0003180 | Flat acetabular roofs | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003273 | Hip contractures | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003311 | Hypoplastic odontoid process | |
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| HP:0003312 | Abnormal form of the vertebral bodies | |
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| HP:0003332 | Absent primary metaphyseal spongiosa | |
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| HP:0003336 | Arrest of endochondral ring structures with persistence of circumferential growth | |
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| HP:0003391 | Gower sign | "A phenomen 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." [HPO:probinson] |
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| HP:0003411 | Irregular proximal femoral metaphyses | |
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| HP:0003477 | Axonal neuropathy | |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0003521 | Short stature, disproportionate (short trunk) | |
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| HP:0003555 | Muscle fiber splitting | "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." [pmid:6123177] |
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| HP:0003562 | Abnormal metaphyseal vascular invasion | |
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| HP:0003621 | Juvenile onset | |
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| HP:0003634 | Generalized amyoplasia | "Generalized congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue." [HPO:curators] |
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| HP:0003674 | Age of onset | |
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| HP:0003680 | Nonprogressive disorder | |
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| HP:0003691 | Scapular winging | |
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| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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| HP:0003697 | Scapuloperoneal atrophy | |
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| HP:0003724 | Shoulder girdle muscle atrophy | "Amyotrophy affecting the muscles of the shoulder girdle." [HPO:curators] |
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| HP:0003795 | Short middle phalanges (feet) | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0003828 | Variable expressivity | |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0003911 | Flared humeral metaphyses | |
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| HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators] |
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| HP:0004268 | Osteoarthritis of the small joints of the hand | |
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| HP:0004322 | Decreased body height | "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)." [HPO:curators] |
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| HP:0004326 | Cachexia | |
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| HP:0004570 | Increased vertebral height | |
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| HP:0004878 | Respiratory failure due to intercostal muscle and diaphragm involvement | |
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| HP:0005042 | Irregular, rachitic-like metaphyses | |
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| HP:0005108 | Abnormality of the intervertebral disks | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005793 | Absent/hypoplastic distal phalanges of hands and feet | |
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| HP:0005819 | Abnormally short and broad middle phalanges | |
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| HP:0005872 | Brachytelomesophalangy | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006069 | Severe carpal ossification delay | |
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| HP:0006239 | Brachymesophalangy of hands and feet | |
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| HP:0006380 | Knee flexion deformities | |
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| HP:0006660 | Aplastic clavicles | |
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| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
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| HP:0007178 | Motor polyneuropathy | |
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| HP:0007230 | Decreased or absent distal sensory nerve action potential | |
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| HP:0007269 | Spinal muscular atrophy | "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] |
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| HP:0008434 | Hypoplastic cervical vertebrae | |
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| HP:0008833 | Irregular acetabular roof | |
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| HP:0008922 | Short-trunk dwarfism identifiable during childhood | |
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| HP:0008955 | Progressive distal muscular atrophy | "Progressive muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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| HP:0008956 | Proximal lower limb muscle atrophy | "Muscular atrophy affecting proximally located muscles of the legs." [HPO:curators] |
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| HP:0008964 | Nonprogressive muscular atrophy | "Muscular atrophy that does not display a progression in severity with time." [HPO:curators] |
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| HP:0009027 | Foot dorsiflexor weakness | |
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| HP:0009049 | Peroneal muscle atrophy | "Atrophy of the peroneous muscles, `peroneus longus (also known as Fibularis longus) (FMA:22539), `Peroneus brevis (also known as fibularis brevis` (FMA:22540), and `Peroneus tertius (also known as fibularis tertius` (FMA:22538)." [HPO:probinson] |
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| HP:0009060 | Scapular muscle atrophy | "Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle." [HPO:curators] |
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| HP:0009063 | Muscle weakness, distal, progressive | "Progressively reduced strength of the distal musculature." [HPO:curators] |
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| HP:0009113 | Diaphragmatic weakness | |
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| HP:0009130 | Amyotrophy involving the musculature of the hand | "Muscular atrophy involving the muscles of the hand." [HPO:curators] |
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| HP:0009381 | Hypoplastic/small fingers | |
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| HP:0009466 | Radial deviation of fingers | |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
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| HP:0010307 | Stridor | "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [HPO:curators] |
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| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
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| HP:0011349 | Abducens palsy | "Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward." [HPO:probinson] |
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| HP:0011727 | Peroneal muscle weakness | "Weakness of the peroneal muscles." [HPO:probinson] |
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| HP:0012246 | Oculomotor nerve palsy | "Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve)." [HPO:probinson] |
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| HP:0030084 | Clinodactyly | "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100670 | Rough bone trabeculation | |
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| HP:0100818 | Long thorax | |
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| HP:0100864 | Hypoplasia of the femoral neck | |
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| HP:0200021 | Rounded shoulders | |
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| HP:0200055 | Small hands | |
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