| 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:0000044 | Hypogonadotrophic hypogonadism | "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] |
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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:0000204 | Cleft lip | "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
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| HP:0000238 | Hydrocephalus | |
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| HP:0000242 | Parietal bossing | "Parietal bossing is an unusual prominence in the parietal region." [HPO:curators] |
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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:0000280 | Coarse facial features | |
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| HP:0000283 | Broad 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: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:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000464 | Abnormality of the neck | |
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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:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
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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:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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| HP:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
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| HP:0000670 | Carious teeth | |
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| HP:0000766 | Abnormality of the sternum | |
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| HP:0000773 | Short ribs | |
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| HP:0000892 | Bifid ribs | "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray." [HPO:curators] |
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| HP:0000912 | Sprengel anomaly | "A complex deformity characterized by congenital elevation of the scapula." [HPO:curators] |
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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:0001056 | Milia | |
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| HP:0001144 | Orbital cysts | "Presence of cysts in the region of teh orbita. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium)." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001270 | Motor retardation | |
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| HP:0001425 | Heterogeneous | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002414 | Spina bifida | "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open." [HPO:curators] |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [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: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:0002671 | Basal cell carcinoma | |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0002885 | Medulloblastoma | |
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| HP:0002937 | Hemivertebrae | |
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| HP:0002948 | Vertebral fusion | "A developmental defect leading to the union of two adjacent vertebrae." [HPO:curators] |
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| HP:0003828 | Variable expressivity | |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0004280 | Irregular ossification of hand bones | |
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| HP:0004408 | Abnormality of the sense of smell | |
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| HP:0004795 | hamartomatous stomach polyps | |
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| HP:0005449 | Bridged sella turcica | |
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| HP:0005462 | Calcification of falx cerebri | |
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| HP:0005815 | Supernumerary ribs | |
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| HP:0008422 | Wedge-shaped vertebrae | |
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| HP:0009650 | Hypoplastic/small distal phalanx of the thumb | "Hypoplastic/small distal/terminal phalanx of the thumb." [HPO:curators] |
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| HP:0009729 | Cardiac rhabdomyoma | "A benign tumor of cardiac striated muscle." [HPO:curators] |
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| HP:0010044 | Hypoplastic/short 4th metacarpal | |
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| HP:0010442 | Polydactyly | |
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| HP:0010603 | Keratocysts of the jaw | "The term odontogenic keratocyst was introduced in 1956 to describe cysts of the jaw exhibiting keratinization of their lining. Periodontal, dentigerous, primordial, residual, and gingival cysts may exhibit keratinized linings and can properly be identified as odontogenic keratocysts on the basis of their histologic appearance but may also be identified by their "developmental" designation. There is no justification for considering the term odontogenic keratocyst as a synonym for primordial cyst, a term that was introduced in 1945 to identify the odontogenic cyst formed from enamel organ before calcification occurred as part of a classification based on development, structure, and radiographic appearance." [HPO:curators] |
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| HP:0010609 | Skin tags | |
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| HP:0010610 | Palmar pits | |
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| HP:0010612 | Plantar pits | |
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| HP:0010617 | Cardiac fibroma | |
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| HP:0010618 | Ovarian fibroma | "Ovarion fibroma belong to the sex cord-stromal tumour group of ovarian neoplasms. Ovary fibromas are most frequent during middle age, and rare in children. Upon gross pathological inspection, ovary fibromas are firm and white or tan." [HPO:curators] |
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| HP:0025318 | Ovarian carcinoma | "A malignant neoplasm originating from the surface ovarian epithelium." [] |
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| HP:0200021 | Rounded shoulders | |
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