| 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:0000105 | Enlarged kidneys | |
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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: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] |
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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:0000316 | Hypertelorism | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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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:0000457 | Flat nose | |
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| HP:0000465 | Webbed neck | |
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| HP:0000470 | Short neck | |
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| HP:0000800 | Cystic renal dysplasia | |
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| HP:0000921 | Missing ribs | |
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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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001538 | Protuberant abdomen | "A thrusting or bulging out of the abdomen." [HPO:curators] |
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| HP:0001562 | Oligohydramnios | |
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| HP:0001591 | Bell-shaped chest | |
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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:0001765 | Hammer toes | |
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| HP:0001804 | Hypoplastic fingernails | "Underdeveloped fingernails." [HPO:curators] |
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| HP:0002089 | Pulmonary hypoplasia | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002126 | Polymicrogyria | "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] |
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| HP:0002475 | Meningomyelocele | |
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| HP:0002779 | Tracheomalacia | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003275 | Narrow pelvis | |
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| HP:0003422 | Vertebral segmentation defects | |
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| HP:0003521 | Short stature, disproportionate (short trunk) | |
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| HP:0004599 | Absent or minimally ossified vertebral bodies | |
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| HP:0005257 | Thoracic hypoplasia | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005562 | Multiple renal cysts | |
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| HP:0005640 | Abnormal vertebral segmentation and fusion | |
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| HP:0006615 | Absent in utero rib ossification | |
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| HP:0008435 | Absent in utero ossification of vertebral bodies | |
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| HP:0008643 | Nephroblastomatosis | |
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| HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
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| HP:0010880 | Increased nuchal translucency | "The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination)." [HPO:probinson, pmid:12751779] |
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| HP:0030290 | Unossified sacrum | "Lack of ossification of the sacrum." [HPO:probinson] |
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| HP:0100625 | Enlarged thorax | |
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| HP:0100752 | Abnormal liver lobulation | |
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| HP:0100880 | Nephrogenic rest | "Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney." [HPO:sdoelken] |
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| HP:0200133 | Lumbosacral meningocele | |
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