| 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:0000077 | Abnormality of the kidneys | "An abnormality of the kidneys, the paired organs whose primary function is the production of urine." [HPO:curators] |
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| HP:0000098 | Increased body height | |
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| HP:0000104 | Renal agenesis | |
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| HP:0000133 | Gonadal dysgenesis | |
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| HP:0000174 | Abnormality of palate | "Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth)." [HPO:probinson] |
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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:0000189 | Narrow palate | "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428] |
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| HP:0000198 | Absence of Stensen duct | |
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| HP:0000217 | Xerostomia | "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators] |
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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:0000238 | Hydrocephalus | |
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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: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] |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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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:0000262 | Turricephaly | "Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull." [HPO:curators] |
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| 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] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000274 | Small face | |
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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:0000294 | Low frontal hairline | "A condition in which the scalp hair is present at lower than usual areas of the forehead." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000324 | Facial asymmetry | |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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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:0000378 | Cup-shaped ears | "Small auricles that grow forward over the meatus (ear canal)." [HPO:curators] |
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| HP:0000388 | Otitis media | |
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| HP:0000389 | Chronic otitis media | |
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| HP:0000403 | Recurrent otitis media | |
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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:0000426 | Prominent nasal bridge | |
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| HP:0000444 | Beaked nose | |
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| HP:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [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: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:0000495 | Recurrent corneal erosions | "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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| HP:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000520 | Proptosis | |
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| HP:0000522 | Alacrima | |
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| HP:0000577 | Exotropia | |
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| HP:0000579 | Nasolacrimal duct obstruction | |
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| HP:0000601 | Hypotelorism | |
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| HP:0000620 | Dacrocystitis | |
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| HP:0000629 | Periorbital fullness | |
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| HP:0000643 | Blepharospasm | "An involuntary recurrent spasm of both eyelids." [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:0000648 | Optic atrophy | |
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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:0000678 | Dental overcrowding | |
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| HP:0000680 | Delayed eruption of deciduous teeth | |
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| HP:0000689 | Dental malocclusion | "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [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:0000772 | Abnormality of the ribs | |
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| HP:0000773 | Short ribs | |
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| HP:0000774 | Narrow chest | |
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| HP:0000889 | Abnormality of the clavicles | "Any abnormality of the clavicles (collar bones)." [HPO:curators] |
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| HP:0000910 | Wide-cupped costochondral junctions | |
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| HP:0000926 | Platyspondyly | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0000946 | Hypoplastic ilia | |
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| HP:0000956 | Acanthosis nigricans | |
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| HP:0000974 | Hyperextensible skin | |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0000995 | Pigmented nevi | "The presence of increased numbers of pigmented nevi, that is, of small, dark spots on the skin. Pigmented nevi are also known as melanocytic nevi or moles." [HPO:curators] |
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| HP:0001034 | Hyperpigmented macules | |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001054 | Numerous nevi | |
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| HP:0001092 | Absent lacrimal puncta | |
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| HP:0001123 | Visual field defects | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001163 | Abnormality of the metacarpal bones | |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001199 | Triphalangeal thumb | "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. The thumb normally consists of the first metacarpal and a proximal and distal phalanx. All other digits have an additional middle phalanx. This term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:curators] |
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| HP:0001233 | 2-3 finger syndactyly | "`Syndactyly` (HP:0001159) with fusion of fingers two and three." [HPO:sdoelken] |
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| HP:0001241 | Capitate-hamate fusion | |
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| HP:0001245 | Thenar hypoplasia | "Underdevelopment of the thenar eminence." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
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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:0001270 | Motor retardation | |
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| HP:0001355 | Megalencephaly | "The presence of an unusually large, and usually malfunctioning brain." [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:0001360 | Holoprosencephaly | "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [gc:hpe] |
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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:0001376 | Decreased mobility of joints | |
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| HP:0001377 | Limited elbow extension | |
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| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0001428 | Somatic mutation | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| HP:0001522 | Death in infancy | |
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| HP:0001558 | Decreased fetal movement | "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001582 | Loose, redundant skin | |
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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:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001643 | Patent ductus arteriosus | |
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| HP:0001645 | Sudden cardiac death | |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001822 | Hallux valgus | "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators] |
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| HP:0001831 | Brachydactyly (feet) | |
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| HP:0001836 | Camptodactyly (feet) | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002076 | Migraine | |
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| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002084 | Encephalocele | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002187 | Mental retardation, profound | "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators] |
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| HP:0002197 | Generalized seizures | "Recurrent generalized `seizures` (HP:0001250), that is seizures that affect both cerebral hemispheres from the start of the seizure, producing loss of consciousness." [HPO:probinson] |
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| HP:0002269 | Neuronal migration disorder | |
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| HP:0002282 | Heterotopia | |
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| HP:0002308 | Arnold-Chiari malformation | "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators] |
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| HP:0002342 | Mental retardation, moderate | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators] |
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| HP:0002512 | Brain stem compression | |
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| HP:0002516 | Increased intracranial pressure | |
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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:0002645 | Wormian bones | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002664 | Neoplasia | "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [HPO:curators] |
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| HP:0002676 | Cloverleaf skull | "A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus." [HPO:curators] |
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| HP:0002677 | Small foramen magnum | "An abnormal decrease in the size of the foramen magnum." [HPO:curators] |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002761 | Generalized joint laxity | "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators] |
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| HP:0002781 | Upper airway obstruction | |
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| HP:0002808 | Kyphosis | |
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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:0002870 | Obstructive sleep apnea | "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." [HPO:curators] |
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| HP:0002871 | Central apnea | "Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow." [HPO:curators] |
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| HP:0002891 | Uterine leiomyosarcoma | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0002970 | Genu varum | |
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| HP:0002980 | Femoral bowing | "Bowing (abnormal curvature) of the femur." [HPO:curators] |
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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:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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| HP:0003015 | Metaphyseal flaring | "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003026 | Short long bones | |
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| HP:0003027 | Mesomelia | "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments." [HPO:sdoelken] |
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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:0003093 | Limited elbow and hip extension | |
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| HP:0003097 | Short femur | "An abnormal shortening of the thigh bones." [HPO:curators] |
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| HP:0003185 | Small sacroiliac notches | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003312 | Abnormal form of the vertebral bodies | |
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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:0003416 | Spinal canal stenosis | |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0003745 | Sporadic | |
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| HP:0003795 | Short middle phalanges (feet) | |
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| HP:0003811 | Neonatal death | |
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| HP:0003974 | Absent ossification/absence of radius | |
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| HP:0004060 | Trident abnormality | "A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits. This abnormality is often seen in patients with achondroplasia." [HPO:curators] |
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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:0004440 | Coronal craniosynostosis | |
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| HP:0004565 | severe platyspondyly | |
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| HP:0004570 | Increased vertebral height | |
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| HP:0005019 | Diaphyseal thickening | |
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| HP:0005037 | Proximal radio-ulnar synostosis | "An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna." [HPO:curators] |
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| HP:0005107 | Abnormality of the sacrum | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005584 | Renal cell carcinoma | "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators] |
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| HP:0005599 | Hair hypopigmentation | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005707 | Bilateral digitalized thumbs | |
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| HP:0005733 | Narrowed spinal canal with reduced interpedicular distance | |
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| HP:0005819 | Abnormally short and broad middle phalanges | |
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| HP:0005871 | Metaphyseal chondrodysplasia | |
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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:0006193 | Broad, thimble-like middle phalanges | |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0006417 | Broad femoral metaphyses | |
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| HP:0006487 | Bowing of the long bones | |
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| HP:0006584 | Small abnormally formed scapulae | |
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| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
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| HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | |
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| HP:0006740 | Transitional cell carcinoma of the bladder | |
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| HP:0006753 | Increased gastric cancer | |
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| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
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| HP:0007392 | Excessive wrinkled skin | |
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| HP:0007598 | Bilateral single palmar creases | |
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| HP:0007656 | Lacrimal gland aplasia/hypoplasia | |
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| HP:0007732 | Hypoplastic lacrimal gland | |
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| HP:0007892 | Aplastic/hypoplastic lacrimal puncta | |
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| HP:0007900 | Hypoplastic lacrimal duct | |
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| HP:0008368 | Synostosis involving tarsal bones | |
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| HP:0008414 | Lumbar kyphosis in infancy | |
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| HP:0008551 | Underdeveloped ears | |
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| HP:0008572 | External ear malformation | |
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| HP:0008743 | Coronal hypospadias | "A mild form of hypospadias in which the urethra opens just under the corona glandis." [HPO:curators] |
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| HP:0008803 | Narrow sacroiliac notch | |
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| HP:0008905 | Rhizomelic short stature | |
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| HP:0008909 | Lethal short-limbed dwarfism | |
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| HP:0008921 | Neonatal short-limbed dwarfism | |
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| HP:0008947 | Infantile muscular hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy." [HPO:curators] |
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| HP:0009118 | Aplasia/Hypoplasia of the mandible | "Absence or underdevelopment of the mandible." [HPO:curators] |
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| HP:0009462 | Radial deviation of the 3rd finger | "Displacement of the 3rd finger towards the radial side." [HPO:curators] |
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| HP:0009466 | Radial deviation of fingers | |
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| HP:0009473 | Joint contractures involving the joints of the hand | |
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| HP:0009637 | Aplasia of the proximal phalanx of the thumb | "Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] |
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| HP:0009701 | Synostosis involving the metacarpal bones | "Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx)." [HPO:curators] |
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| HP:0009702 | Synostosis involving the carpal bones | |
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| HP:0009738 | Abnormal antihelix | "An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis." [HPO:curators] |
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| HP:0009740 | Aplasia of the parotid gland | "Absence of the parotid gland." [HPO:curators] |
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| HP:0009741 | Nephrosclerosis | "Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries." [HPO:curators] |
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| HP:0009792 | Teratoma | "Teratomas are germ-cell tumors commonly composed of multiple cell types derived from one or more of the three germ layers." [HPO:curators] |
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| HP:0009811 | Abnormality of the elbow | |
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| HP:0009815 | Aplasia/Hypoplasia of the extremities | "Absence or underdevelopment of the extremities." [HPO:curators] |
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| HP:0009891 | Hypoplasia of the supraorbital ridges | "Underdevelopment of the supraorbital ridges." [HPO:curators] |
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| HP:0009899 | Abnormal prominence of the crus of the ear | "Abnormal prominence of the crus of the ear." [HPO:curators] |
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| HP:0009944 | Partial duplication of the phalanges of the thumb | "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] |
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| HP:0010055 | Broad hallux | |
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| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a ball-in-a-socket appearance. The related entity angel-shaped epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] |
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| HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
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| HP:0010502 | Fibular bowing | "A developmental defect with posteromedial fibular angulation." [HPO:curators] |
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| HP:0010535 | Sleep apnea | "An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." [HPO:curators] |
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| HP:0010579 | Cone-shaped epiphyses | |
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| HP:0010807 | Open bite | "Visible space between the dental arches in occlusion." [pmid:19125428] |
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| HP:0010864 | Mental retardation, severe | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
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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:0011003 | Severe Myopia | |
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| HP:0011065 | Conical incisor | "An abnormal `conical` (PATO:0002021) morphology of the `incisor tooth` (FMA:12823)." [HPO:ibailleulforestier] |
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| HP:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
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| HP:0011344 | Severe global developmental delay | "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
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| HP:0011386 | Narrow internal auditory canal | "Reduction in diameter of the internal auditory canal." [DDD:dfitzpatrick] |
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| HP:0011405 | Childhood onset short-limb short stature | |
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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:0012081 | Enlarged cerebellum | "An abnormally increased size of the cerebellum compared to other brain structures." [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:0012444 | Brain atrophy | "Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson] |
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| HP:0030084 | Clinodactyly | "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] |
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| HP:0030431 | Osteochondroma | "A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone." [HPO:probinson, pmid:18271966] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0100258 | Preaxial polydactyly | "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe." [HPO:probinson] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100491 | Abnormality of the joints of the lower limbs | |
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| HP:0100533 | Inflammatory abnormality of the eye | "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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| HP:0100583 | Corneal perforation | |
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| HP:0100818 | Long thorax | |
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| HP:0100864 | Hypoplasia of the femoral neck | |
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