| 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: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:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000107 | Renal cysts | |
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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:0000204 | Cleft lip | "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
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| HP:0000269 | Prominent occiput | |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000283 | Broad face | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000384 | Preauricular skin tag | "A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear)." [HPO:curators] |
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| HP:0000405 | Hearing loss, conductive | |
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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:0000410 | Mixed hearing loss | |
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| HP:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000455 | Broad nasal tip | |
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| HP:0000470 | Short neck | |
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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:0000520 | Proptosis | |
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| HP:0000586 | Shallow orbits | |
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| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [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:0000774 | Narrow chest | |
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| HP:0000824 | Growth hormone deficiency | "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators] |
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| HP:0000878 | 11 pairs of ribs | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001163 | Abnormality of the metacarpal bones | |
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| HP:0001217 | Clubbing | "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions." [HPO:curators] |
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| HP:0001222 | Spatulate thumbs | "Spoon-shaped, broad thumbs." [HPO:curators] |
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| HP:0001234 | Hitchhiker thumb | "The condition known as "hitchhiker s thumb" means, that the distal phalanx of the thumb, when the thumb is extended (as in a "thumbs-up"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending." [HPO:curators] |
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| HP:0001241 | Capitate-hamate fusion | |
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| HP:0001249 | Mental retardation | |
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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:0001388 | Joint laxity | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001539 | Omphalocele | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001602 | Laryngeal stenosis | |
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| HP:0001622 | Premature birth | |
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| HP:0001626 | Abnormality of the cardiovascular system | "Any abnormality of the heart or vasculature." [HPO:curators] |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [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: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:0001772 | Talipes equinovalgus | |
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| HP:0001789 | Hydrops fetalis | |
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| HP:0001799 | Short nails | |
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| HP:0001852 | Gap between first and second toes | "The presence of a larger than normal gap between the first and second toes related to medial displacement of the first toe." [HPO:curators] |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002084 | Encephalocele | |
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| HP:0002091 | Restrictive lung disease | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002176 | Spinal cord compression | |
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| HP:0002644 | Abnormality of the pelvis | "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [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:0002656 | Epiphyseal 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:0002777 | Tracheal stenosis | |
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| HP:0002779 | Tracheomalacia | |
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| HP:0002780 | Bronchomalacia | |
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| HP:0002818 | Abnormality of the radius | |
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| HP:0002823 | Abnormality of the femur | "Abnormality of the femur (i.e., the thigh bone)." [HPO:curators] |
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| HP:0002827 | Dislocated hips | |
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| HP:0002947 | Cervical kyphosis | |
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| HP:0002949 | Fused cervical vertebrae | |
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| HP:0002982 | Tibial bowing | "A developmental defect with posteromedial tibial angulation." [HPO:curators] |
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| HP:0002983 | Micromelia | |
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| HP:0002986 | Radial bowing | |
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| HP:0002990 | Fibular aplasia | "Absence of the fibula." [HPO:curators] |
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| HP:0002992 | Abnormality of the tibia | "Abnormality of the tibia (shinbone)." [HPO:curators] |
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| HP:0002997 | Abnormality of the ulna | "Ab abnormality of the ulna bone of the forearm." [HPO:curators] |
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| HP:0003042 | Elbow dislocation | "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators] |
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| HP:0003063 | Abnormality of the humerus | "An abnormality of the humerus (i.e., upper arm bone)." [HPO:curators] |
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| HP:0003097 | Short femur | "An abnormal shortening of the thigh bones." [HPO:curators] |
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| HP:0003180 | Flat acetabular roofs | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003298 | Spina bifida occulta | "The closed form of spina bifida." [HPO:curators] |
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| HP:0003304 | Spondylolysis | |
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| HP:0003305 | Block vertebrae | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003311 | Hypoplastic odontoid process | |
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| HP:0003319 | Abnormality of the cervical spine | "Any abnormality of the cervical vertebral bodies." [HPO:curators] |
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| HP:0003417 | Coronal cleft vertebrae | |
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| HP:0003422 | Vertebral segmentation defects | |
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| HP:0003440 | Horizontal sacrum | |
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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:0003745 | Sporadic | |
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| HP:0003811 | Neonatal death | |
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| HP:0003826 | Stillborn or neonatal death | |
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| HP:0003974 | Absent ossification/absence of radius | |
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| HP:0003994 | Dislocated wrist | |
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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:0004232 | Accessory carpal bones | "The presence of more than the normal number of carpal bones." [HPO:curators] |
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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:0004568 | Beaking of vertebral bodies | |
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| HP:0004592 | thoracic platyspondyly | |
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| HP:0004632 | cervical segmentation defects | |
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| HP:0004942 | Aortic aneurysms | |
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| HP:0004976 | Dislocations of the knees | |
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| HP:0005008 | Large joint dislocations | |
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| HP:0005104 | Hypoplastic nasal septum | "Underdevelopment of the nasal septum." [HPO:curators] |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005792 | Humeral hypoplasia | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006060 | Tombstone-shaped proximal phalanges | |
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| HP:0006067 | Multiple carpal ossification centers | |
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| HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0006200 | Widened distal phalanges | |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0006406 | Club-shaped proximal femurs | |
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| HP:0006408 | Short femora with proximal clubbing and distal tapering | |
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| HP:0006492 | Aplasia/Hypoplasia of the fibula | "Absence or underdevelopment of the fibula." [HPO:curators] |
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| HP:0006495 | Aplasia/Hypoplasia of the ulna | "Absence or underdevelopment of the ulna." [HPO:curators] |
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| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0008127 | Bipartite calcaneus | "Bipartite calcaneus is a rarely observed radiographic finding that probably results from delayed coalescence of two primary calcaneal centers of ossification." [HPO:curators] |
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| HP:0008368 | Synostosis involving tarsal bones | |
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| HP:0008434 | Hypoplastic cervical vertebrae | |
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| HP:0008456 | C2-C3 subluxation | "A partial dislocation of the intervertebral joint between the second and third cervical vertebrae." [HPO:curators] |
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| HP:0008755 | Laryngotracheomalacia | |
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| HP:0008824 | Hypoplastic iliac body | |
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| HP:0008890 | Severe short-limb dwarfism | |
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| HP:0008905 | Rhizomelic short stature | |
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| HP:0009702 | Synostosis involving the carpal bones | |
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| HP:0009836 | Broad distal phalanges of the hand | "Abnormally wide (broad) distal phalanges of the fingers." [HPO:curators] |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | "Absence or underdevelopment of the abdominal wall musculature." [HPO:curators] |
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| HP:0010743 | Hypoplasia of the metatarsal bones | |
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| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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| HP:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
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| HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
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| HP:0012368 | Flat face | "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] |
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| HP:0030330 | Multinucleated giant chondrocytes in epiphyseal cartilage | "The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage." [HPO:probinson] |
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| HP:0100856 | Poorly ossified vertebrae | "Decreased `ossification` ( GO:0001503) of the `vertebral bodies` (FMA:11945)." [HPO:sdoelken] |
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