| HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000023 | Inguinal hernia | |
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| HP:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
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| HP:0000187 | Broad alveolar ridges | |
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| HP:0000280 | Coarse facial features | |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000341 | Narrow forehead | "An abnormally reduced side-to-side width of the forehead." [HPO:curators] |
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| HP:0000343 | Long philtrum | |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000403 | Recurrent otitis media | |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000484 | Hyperopic astigmatism | |
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| HP:0000485 | Megalocornea | "An enlargement of the `cornea` (FMA:58238) with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [HPO:curators] |
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| HP:0000535 | Sparse eyebrows | |
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| HP:0000546 | Retinal degeneration | |
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| HP:0000765 | Abnormality of the thorax | "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] |
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| HP:0000773 | Short ribs | |
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| HP:0000882 | Hypoplastic scapulae | |
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| HP:0000885 | Broad ribs | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0000943 | Dysostosis multiplex | |
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| HP:0000963 | Thin skin | |
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| HP:0001048 | Cavernous hemangioma | "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [HPO:curators] |
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| HP:0001072 | Thickened skin | |
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| HP:0001131 | Corneal dystrophy | |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001249 | Mental retardation | |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| HP:0001328 | Learning disability | |
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| HP:0001363 | Craniosynostosis | "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators] |
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| HP:0001498 | Carpal bone hypoplasia | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
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| HP:0001538 | Protuberant abdomen | "A thrusting or bulging out of the abdomen." [HPO:curators] |
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| HP:0001540 | Diastasis recti | |
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| HP:0001547 | Abnormality of the morphology or size of the rib cage | |
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| HP:0001609 | Hoarse voice | |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001640 | Cardiomegaly | |
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| HP:0001654 | Abnormality of the heart valves | "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson] |
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| HP:0001659 | Aortic insufficiency | "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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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:0001824 | Weight loss | |
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| HP:0002196 | Myelopathy | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002230 | Generalized hirsutism | "Abnormally increased hair growth over much of the entire body." [HPO:curators] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002680 | J-shaped sella turcica | "A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull." [HPO:curators] |
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| HP:0002684 | Thickened calvaria | "The presence of an abnormally thick calvaria." [HPO:curators] |
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| HP:0002690 | Large sella turcica | "An abnormal enlargement of the sella turcica." [HPO:curators] |
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| HP:0002756 | Pathologic fracture | "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] |
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| HP:0002808 | Kyphosis | |
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| HP:0002827 | Dislocated hips | |
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| HP:0002837 | Bronchitis | |
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| HP:0002869 | Flared iliac wings | |
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| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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| HP:0003026 | Short long bones | |
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| HP:0003180 | Flat acetabular roofs | |
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| HP:0003182 | Shallow acetabular fossae | |
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| HP:0003264 | Deficiency of N-acetylglucosamine-1-phosphotransferase | |
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| HP:0003300 | Ovoid vertebral bodies | |
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| HP:0003311 | Hypoplastic odontoid process | |
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| HP:0003333 | Increased serum beta-hexosaminidase (10-20x) | |
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| HP:0003414 | Atlantoaxial dislocation | "Partial dislocation of the atlantoaxial joint." [HPO:curators] |
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| HP:0003423 | Thoracolumbar kyphoscoliosis | |
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| HP:0003538 | Increased serum iduronate sulfatase (10-20x) | |
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| HP:0003819 | Death in childhood | |
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| HP:0004236 | Irregular carpal bones | |
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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:0004562 | beaking of vertebral bodies t12-l3 | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0006162 | Soft tissue swelling of interphalangeal joints | |
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| HP:0006362 | Varus deformity of humeral neck | |
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| HP:0006532 | Pneumonia, recurrent episodes | |
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| HP:0006610 | Wide intermamillary distance | |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0008155 | Acid mucopolysacchariduria | |
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| HP:0008470 | Narrowness of interpediculate distances in lower thoracic regions | |
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| HP:0008850 | Postnatal growth retardation, severe | |
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| HP:0009092 | Progressive alveolar ridge hypertropy | |
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| HP:0009769 | Bullet-shaped phalanges of the hand | "The presence of short and wide phalanges which taper distally ("bullet shaped")." [HPO:curators] |
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| HP:0011344 | Severe global developmental delay | "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
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| HP:0012185 | Constrictive median neuropathy | "Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand." [HPO:probinson] |
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| HP:0012639 | Abnormality of nervous system morphology | "A structural anomaly of the `nervous system` (FMA:7157)." [HPO:probinson] |
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| HP:0030148 | Heart murmur | "An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart." [HPO:probinson] |
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| HP:0100540 | Palpebral edema | |
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| HP:0100679 | Lack of skin elasticity | |
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| HP:0100790 | Hernia | |
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| HP:0200020 | Corneal erosions | "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken] |
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