| 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:0000098 | Increased body height | |
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| HP:0000212 | Gingival hyperplasia | |
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| HP:0000276 | Long face | |
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| HP:0000293 | Full cheeks | |
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| HP:0000307 | Pointed chin | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000326 | Abnormality of the maxilla | "An abnormality of the `Maxilla` (FMA:9711) (upper jaw bone)." [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: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:0000408 | Hearing loss, sensorineural, progressive | |
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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:0000448 | Prominent nose | |
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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:0000480 | Retinal coloboma | |
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| HP:0000482 | Microcornea | "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson] |
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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:0000494 | Downward slanting palpebral fissures | |
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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:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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| HP:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
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| HP:0000664 | Synophrys | "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] |
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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:0000670 | Carious teeth | |
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| HP:0000679 | Taurodontia | |
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| HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000687 | Widely spaced teeth | |
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| HP:0000691 | Microdontia | |
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| HP:0000698 | Conical teeth | |
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| HP:0000704 | Periodontal disease | |
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| HP:0001291 | Abnormality of the cranial nerves | "Abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [HPO:curators.] |
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| HP:0001757 | High-tone sensorineural deafness | |
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| HP:0002194 | Delayed gross motor development | |
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| HP:0003771 | Pulp stones | |
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| HP:0008499 | High-grade hypermetropia | |
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| HP:0008551 | Underdeveloped ears | |
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| HP:0010609 | Skin tags | |
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| HP:0011051 | Agenesis of premolar | "`Agenesis` (MPATH:57) of `premolar tooth` (FMA:55637)." [HPO:ibailleulforestier] |
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| HP:0011068 | Odontoma | "The presence of an `odontoma` (MPATH:387)." [HPO:ibailleulforestier] |
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| HP:0011069 | Increased number of teeth | "The presence of a `supernumerary` (PATO:0000470), i.e., extra, `tooth` (FMA:12516) or teeth." [HPO:ibailleulforestier] |
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| HP:0011078 | Abnormality of canine | "An abnormality of `canine tooth` (FMA:55636)." [HPO:ibailleulforestier] |
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| HP:0011266 | Microtia, first degree | "Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean." [pmid:19152421] |
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| HP:0011372 | Aplasia of the inner ear | "Absence of the inner ear due to a developmental defect." [DDD:dfitzpatrick] |
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| HP:0011476 | Profound sensorineural hearing impairment | "Complete loss of hearing related to a sensorineural defect." [DDD:dfitzpatrick] |
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| HP:0031353 | Otitis media with effusion | "Otitis media characterized by thick or sticky fluid behind the tympanic membrane." [ORCID:0000-0001-5208-3432] |
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| HP:0040080 | Anteverted ears | |
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| HP:0100719 | Lens coloboma | |
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