| 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:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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| HP:0000162 | Glossoptosis | |
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| HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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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:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
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| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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| HP:0000201 | Pierre-Robin sequence | |
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| HP:0000215 | Prominent upper lip | |
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| HP:0000218 | High palate | "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)." [pmid:19125428] |
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| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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| HP:0000260 | Wide anterior fontanel | "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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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:0000311 | Round face | "An unusually round appearance of the face." [HPO:curators] |
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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:0000343 | Long philtrum | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000364 | Hearing abnormality | |
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| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000377 | Abnormal form of ears | "Abnormal form of the out part of the ear (also referred to as the auricle or pinna)." [HPO:curators] |
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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:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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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:0000470 | Short neck | |
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| HP:0000483 | 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:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000488 | Retinopathy | |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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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:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
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| HP:0000520 | Proptosis | |
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| HP:0000535 | Sparse eyebrows | |
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| HP:0000541 | Detached retina | |
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| HP:0000545 | Myopia | |
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| HP:0000565 | Esotropia | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000646 | Amblyopia | "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes." [HPO:curators] |
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| HP:0000653 | Sparse eyelashes | "Decreased density/number of eyelashes." [pmid:19125427] |
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| HP:0000655 | Vitreoretinal degeneration | |
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| HP:0000675 | Prominent upper central incisors | |
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| HP:0000773 | Short ribs | |
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| HP:0000774 | Narrow chest | |
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| HP:0000882 | Hypoplastic scapulae | |
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| HP:0000883 | Thin ribs | |
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| HP:0000885 | Broad ribs | |
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| HP:0000890 | Long clavicles | |
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| HP:0000907 | Anterior rib cupping | |
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| HP:0000922 | Posterior rib cupping | |
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| HP:0000926 | Platyspondyly | |
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| HP:0000940 | Abnormality of the diaphyses | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0000946 | Hypoplastic ilia | |
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| HP:0000947 | Dumbbell-shaped long bones | |
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| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| HP:0001006 | Hypotrichosis | "Reduced or lacking hair growth." [HPO:curators] |
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| HP:0001083 | Ectopia lentis | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001357 | Plagiocephaly | "An asymmetric head shape often resulting from premature closure of only one of the coronal sutures." [HPO:curators] |
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| HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [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:0001539 | Omphalocele | |
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| HP:0001591 | Bell-shaped chest | |
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| HP:0001622 | Premature birth | |
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| HP:0001655 | Patent foramen ovale | |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001789 | Hydrops fetalis | |
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| HP:0001800 | Hypoplastic toenails | "Underdeveloped toenails." [HPO:curators] |
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| HP:0001804 | Hypoplastic fingernails | "Underdeveloped fingernails." [HPO:curators] |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002655 | Spondyloepiphyseal dysplasia | |
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| HP:0002656 | Epiphyseal dysplasia | |
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| HP:0002673 | Coxa valga | "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators] |
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| HP:0002684 | Thickened calvaria | "The presence of an abnormally thick calvaria." [HPO:curators] |
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| HP:0002688 | Absent frontal sinuses | |
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| HP:0002738 | Hypoplastic frontal sinuses | |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002781 | Upper airway obstruction | |
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| HP:0002829 | Arthralgia | |
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| HP:0002857 | Genu valgum | |
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| HP:0002980 | Femoral bowing | "Bowing (abnormal curvature) of the femur." [HPO:curators] |
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| HP:0002983 | Micromelia | |
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| HP:0002986 | Radial bowing | |
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| HP:0003026 | Short long bones | |
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| HP:0003031 | Ulnar bowing | "Bending of the diaphysis (shaft) of the ulna, usually in the convex posterior direction." [HPO:curators] |
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| HP:0003038 | Fibular hypoplasia | "Underdevelopment of the fibula." [HPO:curators] |
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| HP:0003040 | Arthropathy | |
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| HP:0003097 | Short femur | "An abnormal shortening of the thigh bones." [HPO:curators] |
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| HP:0003175 | Hypoplastic ischia | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003301 | Irregular vertebral endplates | "An irregular surface of the vertebral end plates, which are normally relatively smooth." [HPO:curators] |
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| HP:0003312 | Abnormal form of the vertebral bodies | |
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| HP:0003375 | Narrow greater sacrosciatic notches | "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [HPO:curators] |
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| HP:0003826 | Stillborn or neonatal death | |
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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:0004279 | Hypoplastic 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:0004327 | Abnormality of the vitreous humor | |
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| HP:0005257 | Thoracic hypoplasia | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005442 | Widely patent coronal suture | "The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [HPO:curators] |
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| HP:0005462 | Calcification of falx cerebri | |
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| HP:0005476 | Widely patent sagittal suture | "The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [HPO:curators] |
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| HP:0005622 | Widened long bones with translucent metaphyseal flaring | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0006095 | Wide tufts of distal phalanges | |
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| HP:0006407 | Small, irregular distal femoral epiphyses | |
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| HP:0006456 | Small, irregular proximal tibial epiphyses | |
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| HP:0006645 | Thin, long clavicles | |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0008451 | Posterior vertebral hypoplasia | |
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| HP:0008905 | Rhizomelic short stature | |
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| HP:0009473 | Joint contractures involving the joints of the hand | |
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| HP:0010669 | Hypoplasia of the zygomatic bone | "Underdevelopment of the `zygomatic bone` (FMA:52747)." [HPO:probinson] |
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| HP:0011003 | Severe Myopia | |
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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:0012019 | Lens luxation | "Complete dislocation of the lens of the eye." [HPO:probinson] |
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| HP:0012283 | Small distal femoral epiphysis | "Reduced size of the `Distal epiphysis of femur` (FMA:32844)." [HPO:probinson] |
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| HP:0012284 | Small proximal tibial epiphyses | "Reduced size of the proximal epiphysis of the tibia." [HPO:probinson] |
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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:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
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| HP:0100250 | Meningeal calcification | "`Calcium deposition` (MPATH:36) affecting the `Meninges` (FMA:231572)." [HPO:sdoelken] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100807 | Long fingers | "The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand." [pmid:19125433] |
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| HP:0100865 | Broad ischia | |
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| HP:0200055 | Small hands | |
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