| 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:0000048 | Bifid scrotum | "Separation of the two halves of the scrotum, whereby commonly the 2 halves of the scrotum meet above the penis." [HPO:curators] |
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| HP:0000059 | Hypoplastic labia majora | |
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| HP:0000063 | Fused labia minora | "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [HPO:curators] |
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| HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
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| HP:0000085 | Horseshoe kidney | |
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| HP:0000104 | Renal agenesis | |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000148 | Vaginal atresia | |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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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:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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| HP:0000198 | Absence of Stensen duct | |
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| HP:0000212 | Gingival hyperplasia | |
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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: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:0000243 | Trigonocephaly | |
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| HP:0000244 | Brachyturricephaly | |
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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: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:0000263 | Oyxcephaly | "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull." [HPO:curators] |
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| HP:0000268 | Dolichocephaly | |
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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: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:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [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:0000343 | Long philtrum | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000364 | Hearing abnormality | |
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| HP:0000365 | Hearing loss | |
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| HP:0000368 | Low-set, posteriorly rotated ears | |
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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:0000378 | Cup-shaped ears | "Small auricles that grow forward over the meatus (ear canal)." [HPO:curators] |
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| HP:0000389 | Chronic otitis media | |
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| HP:0000391 | Thickened helices | |
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| HP:0000400 | Large ears | |
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| HP:0000402 | Stenotic external auditory canal | "An abnormal narrowing of the external auditory canal." [HPO:curators] |
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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:0000413 | External auditory canal atresia | "Absence or failure to form of the external auditory canal." [HPO:curators] |
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| HP:0000426 | Prominent nasal bridge | |
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| HP:0000444 | Beaked nose | |
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| HP:0000452 | Choanal stenosis | "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:curators] |
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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:0000460 | Narrow 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: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: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:0000504 | Abnormality of vision | "Abnormality of eyesight (visual perception)." [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:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
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| HP:0000520 | Proptosis | |
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| HP:0000522 | Alacrima | |
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| HP:0000557 | Buphthalmos | "Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek bous or ox and ophthalmos or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched." [HPO:curators] |
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| HP:0000572 | Visual loss | |
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| HP:0000579 | Nasolacrimal duct obstruction | |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000586 | Shallow orbits | |
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| HP:0000601 | Hypotelorism | |
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| HP:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
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| HP:0000614 | Abnormality of the lacrimal duct | |
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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:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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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:0000695 | Neonatal teeth | |
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| HP:0000772 | Abnormality of the ribs | |
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| HP:0000774 | Narrow chest | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000894 | Short clavicles | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0000956 | Acanthosis nigricans | |
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| HP:0000974 | Hyperextensible skin | |
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| HP:0000982 | Palmoplantar keratoderma | |
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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:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001061 | Acne | |
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| HP:0001092 | Absent lacrimal puncta | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001162 | Postaxial polydactyly (hands) | "Supernumerary digits located at the ulnar side of the hand." [HPO:curators] |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001177 | Preaxial polydactyly (hands) | "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:curators] |
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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: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:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [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:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001331 | Absent septum pellucidum | "Absence of the septum pellucidum." [HPO:curators] |
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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: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:0001371 | Contractures | |
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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:0001433 | Hepatosplenomegaly | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001507 | Growth abnormality | |
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| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
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| HP:0001545 | Anteriorly placed anus | "Anterior malposition of the anus." [HPO:curators] |
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| HP:0001591 | Bell-shaped chest | |
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| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
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| HP:0001601 | Laryngomalacia | |
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| HP:0001627 | Cardiac abnormality | "An abnormality of the `heart` (FMA:7088)." [HPO:probinson] |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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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:0001732 | Abnormality of the pancreas | |
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| HP:0001739 | Abnormality of the nasopharynx | |
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| HP:0001770 | Toe syndactyly | "Webbing or fusion of the toes, 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 toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001783 | Broad metatarsals | |
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| HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
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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:0001838 | Vertical talus | |
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| HP:0001839 | Ectrodactyly (feet) | "A condition in which the middle toe is missing, and the foot is cleft where the metatarsal corresponding to the toe would normally be." [HPO:curators] |
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| HP:0001841 | Preaxial polydactyly (feet) | "This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet." [HPO:curators] |
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| HP:0001883 | Talipes | |
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| HP:0001978 | Extramedullary hematopoiesis | |
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| HP:0001999 | Facial dysmorphism | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002021 | Pyloric stenosis | |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002032 | Esophageal atresia | "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators] |
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| HP:0002076 | Migraine | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002119 | Ventriculomegaly | |
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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:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [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:0002410 | Aqueductal stenosis | "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum." [HPO:curators] |
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| HP:0002516 | Increased intracranial pressure | |
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| HP:0002566 | Intestinal malrotation | "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators] |
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| HP:0002623 | Overriding aorta | "An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle." [HPO:curators] |
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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:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [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:0002678 | Skull asymmetry | |
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| HP:0002697 | Parietal foramina | |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002779 | Tracheomalacia | |
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| HP:0002780 | Bronchomalacia | |
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| HP:0002781 | Upper airway obstruction | |
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| HP:0002974 | Radioulnar synostosis | "An abnormal osseous union (fusion) between the radius and the ulna." [HPO:curators] |
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| HP:0002979 | Bowing of the legs | |
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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:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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| HP:0002991 | Abnormality of the fibula | |
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| HP:0003002 | Breast cancer | |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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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:0003041 | Radiohumeral synostosis | "An abnormal osseous union (fusion) between the radius and the humerus." [HPO:curators] |
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| HP:0003070 | Elbow ankylosis | |
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| HP:0003175 | Hypoplastic ischia | |
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| HP:0003189 | Long nose | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003246 | Prominent scrotal raphe | |
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| HP:0003275 | Narrow pelvis | |
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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:0003795 | Short middle phalanges (feet) | |
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| HP:0003828 | Variable expressivity | |
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| HP:0003974 | Absent ossification/absence of radius | |
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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:0004397 | Ectopic anus | "Abnormal displacement or malposition of the anus." [HPO:curators] |
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| HP:0004425 | Flattened forehead | "An abnormally flat form of the forehead." [HPO:curators] |
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| HP:0004439 | Craniofacial dysostosis | |
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| HP:0004440 | Coronal craniosynostosis | |
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| HP:0004442 | Sagittal craniosynostosis | |
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| HP:0004443 | Lambdoidal craniosynostosis | |
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| HP:0004450 | preauricular skin furrows | |
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| HP:0004453 | Overfolding of the superior helices | |
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| HP:0004468 | Anomalous tracheal cartilage | |
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| HP:0004487 | Acrobrachycephaly | "An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures." [HPO:curators] |
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| HP:0004635 | cervical vertebrae fusion, usually at c5 to c6 | |
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| HP:0004691 | 2-3 toe syndactyly | "`Syndactyly` (HP:0001159) with fusion of toes two and three." [HPO:sdoelken] |
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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:0005048 | fusion of carpal bones, especially capitate and hamate | |
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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:0005347 | Cartilaginous trachea | |
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| HP:0005474 | Poorly ossified calvaria | "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)." [HPO:curators] |
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| HP:0005707 | Bilateral digitalized thumbs | |
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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:0006110 | Disproportionately short middle phalanges | |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0007099 | Arnold-Chiari type I malformation | "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle." [HPO:curators] |
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| HP:0007291 | Posterior fossa cysts | |
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| HP:0007343 | Limbic malformations | |
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| HP:0007469 | Cutis gyrata of palms and soles | |
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| HP:0007517 | Cutis laxa, hands and feet | |
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| HP:0007598 | Bilateral single palmar creases | |
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| HP:0007642 | Congenital stationary night blindness | |
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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:0008080 | Hallux varus | "Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially." [HPO:curators] |
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| HP:0008111 | Broad distal hallux | |
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| HP:0008122 | Tarsonavicular and calcaneonavicular fusion | |
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| HP:0008551 | Underdeveloped ears | |
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| HP:0008572 | External ear malformation | |
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| HP:0008665 | Hypertrophic clitoris | |
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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:0008872 | Feeding problems in infancy | |
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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:0009601 | Aplasia/Hypoplasia of the thumb | "Hypoplastic/small or absent thumb." [HPO:curators] |
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| HP:0009603 | Deviation/Displacement of the thumb | "Displacement of the thumb from its normal position." [HPO:curators] |
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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:0009642 | Broad distal phalanx of the thumb | "Increased width of the distal phalanx of the thumb." [HPO:curators] |
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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:0009773 | Symphalangism affecting the phalanges of the hand | "Fusion of two or more phalangeal bones of the hand." [HPO:curators] |
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| HP:0009804 | Reduced number of teeth | |
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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:0009906 | Aplasia/Hypoplasia of the earlobes | "Absence or underdevelopment of the ear lobes." [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:0009951 | Partial duplication of the distal phalanx of the 2nd finger | "A partial duplication of the distal phalanx of the index finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] |
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| HP:0009968 | Partial duplication of the distal phalanx of the 3rd finger | "A partial duplication of the distal phalanx of the middle finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] |
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| HP:0010055 | Broad hallux | |
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| HP:0010059 | Broad phalanges of the hallux | |
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| HP:0010104 | Aplasia of the 1st metatarsal | |
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| HP:0010109 | Hypoplastic/small hallux | |
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| HP:0010455 | Steep acetabular roofs | |
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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:0010554 | Cutaneous syndactyly of the fingers | "Webbing or fusion of the fingers involving soft parts only." [HPO:curators] |
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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:0010743 | Hypoplasia of the metatarsal bones | |
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| HP:0010807 | Open bite | "Visible space between the dental arches in occlusion." [pmid:19125428] |
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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:0011223 | Metopic depression | "Linear vertical groove in the midline of the forehead, extending from hairline to glabella." [pmid:19125436] |
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| HP:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
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| HP:0011318 | Bicoronal synostosis | "Synostosis affecting the right and the left coronal suture." [DDD:awilkie] |
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| HP:0011323 | Cleft of chin | "Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin." [DDD:jclayton-smith] |
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| HP:0011324 | Multiple suture craniosynostosis | "Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified." [DDD:awilkie] |
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| HP:0011380 | Morphological abnormality of the semicircular canal | "An abnormality of the morphology of the `semicircular canal` (FMA:60186)." [DDD:dfitzpatrick] |
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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: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:0012126 | Stomach cancer | "A cancer arising in any part of the stomach." [HPO:probinson] |
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| HP:0012210 | Abnormal renal morphology | "Any structural anomaly of the `kidney` (FMA:7203)." [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:0030042 | Incomplete ossification of pubis | "Failure to complete ossification (maturation and calcification) of the pubic bone." [] |
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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:0040166 | Abnormality of the periosteum | |
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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:0100583 | Corneal perforation | |
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| HP:0100615 | Ovarian neoplasm | "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson] |
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| HP:0100621 | Dysgerminoma | "The presence of a `dysgerminoma` (MPATH:312), i.e., an undifferentiated germ cell tumor of the `ovary` (FMA:7209)." [HPO:sdoelken] |
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| HP:0100702 | Arachnoid cyst | "Arachnoid cysts are filled with cerebrospinal fluid encased by arachnoidal cells." [HPO:sdoelken] |
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| HP:0100761 | Visceral angiomatosis | |
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| HP:0200020 | Corneal erosions | "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken] |
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| HP:0200055 | Small hands | |
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| HP:0410067 | Increased level of L-fucose in urine | "An increase in the level of L-fucose in the urine." [PMID:2311216] |
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