| 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] |
Show
|
| HP:0000072 | Hydroureter | "The distention of the ureter with urine." [HPO:curators] |
Show
|
| HP:0000126 | Hydronephrosis | |
Show
|
| HP:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
Show
|
| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
Show
|
| HP:0000169 | Gingival fibromatosis | "Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0000212 | Gingival hyperplasia | |
Show
|
| 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] |
Show
|
| HP:0000238 | Hydrocephalus | |
Show
|
| HP:0000239 | Large fontanelles | "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators] |
Show
|
| HP:0000244 | Brachyturricephaly | |
Show
|
| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
Show
|
| HP:0000270 | Delayed closure of fontanelles | "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:curators] |
Show
|
| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
Show
|
| HP:0000278 | Retrognathia | |
Show
|
| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
Show
|
| 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] |
Show
|
| HP:0000410 | Mixed hearing loss | |
Show
|
| HP:0000411 | Protruding ears | |
Show
|
| HP:0000452 | Choanal stenosis | "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:curators] |
Show
|
| HP:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] |
Show
|
| HP:0000457 | Flat nose | |
Show
|
| 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] |
Show
|
| HP:0000470 | Short neck | |
Show
|
| HP:0000494 | Downward slanting palpebral fissures | |
Show
|
| HP:0000520 | Proptosis | |
Show
|
| HP:0000691 | Microdontia | |
Show
|
| HP:0000695 | Neonatal teeth | |
Show
|
| 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] |
Show
|
| HP:0001156 | Brachydactyly | |
Show
|
| 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] |
Show
|
| HP:0001357 | Plagiocephaly | "An asymmetric head shape often resulting from premature closure of only one of the coronal sutures." [HPO:curators] |
Show
|
| HP:0001511 | Intrauterine growth retardation | |
Show
|
| HP:0001847 | Increased length of the hallux | "Increased length of the big toe." [HPO:curators] |
Show
|
| HP:0002089 | Pulmonary hypoplasia | |
Show
|
| HP:0002098 | Respiratory distress | |
Show
|
| HP:0002148 | Hypophosphatemia | "A lower than normal level of blood phosphate." [HPO:curators] |
Show
|
| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
Show
|
| HP:0002553 | Arched eyebrows | |
Show
|
| HP:0002804 | Arthrogryposis multiplex congenita | |
Show
|
| HP:0002878 | Early respiratory failure | |
Show
|
| HP:0002983 | Micromelia | |
Show
|
| HP:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
Show
|
| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
Show
|
| HP:0003811 | Neonatal death | |
Show
|
| 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] |
Show
|
| HP:0005257 | Thoracic hypoplasia | |
Show
|
| HP:0005280 | Depressed nasal root and bridge | |
Show
|
| HP:0006297 | Hypoplastic dental enamel | |
Show
|
| HP:0006487 | Bowing of the long bones | |
Show
|
| HP:0008501 | Median cleft lip/palate | "Cleft lip or palate affecting the midline region of the palate." [HPO:curators] |
Show
|
| HP:0009939 | Mandibular aplasia | "Absence of the mandible." [HPO:curators] |
Show
|
| HP:0010808 | Protruding tongue | "Tongue extending beyond the alveolar ridges or teeth at rest." [pmid:19125428] |
Show
|
| HP:0011001 | Increased bone mineral density | "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:curators] |
Show
|
| 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] |
Show
|
