| 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:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000232 | Everted lower lip | |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000365 | Hearing loss | |
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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:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [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: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:0000520 | Proptosis | |
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| HP:0000523 | Subcapsular cataracts | |
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| HP:0000526 | Aniridia | "Congenital absence of the iris." [HPO:curators] |
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| HP:0000558 | Rieger anomaly | |
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| HP:0000572 | Visual loss | |
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| HP:0000593 | Abnormality of the anterior chamber | "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris." [HPO:curators] |
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| HP:0000627 | Posterior embryotoxon | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000659 | Peters anomaly | |
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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:0000691 | Microdontia | |
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| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
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| HP:0001087 | Congenital glaucoma | |
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| HP:0001320 | Cerebellar vermis hypoplasia | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001492 | Axenfeld anomaly | |
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| HP:0001510 | Growth retardation | |
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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:0001643 | Patent ductus arteriosus | |
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| HP:0002025 | Anal stenosis | "Abnormal narrowing of the anal opening." [HPO:curators] |
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| HP:0002280 | Enlarged cisterna magna | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0007676 | Hypoplasia of the iris | |
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| HP:0007905 | Abnormal iris vasculature | |
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| HP:0007990 | Hypoplastic iris stroma | |
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| HP:0008053 | Aplasia/Hypoplasia of the iris | "Absence or underdevelopment of the iris." [HPO:curators] |
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| HP:0008059 | Aplasia/Hypoplasia of the macula | |
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| HP:0009918 | Ectopia pupillae | "A malposition of the pupil." [HPO:curators] |
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| HP:0011120 | Saddle nose | "A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum." [HPO:probinson] |
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| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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| HP:0011483 | Anterior synechiae of the anterior chamber | "Adhesions between the iris and the cornea." [DDD:ncarter] |
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| HP:0011493 | Central opacification of the cornea | "Reduced transparency of the central portion of the corneal stroma." [DDD:ncarter] |
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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:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0031159 | Thinning of Descemet membrane | "A reduction in the thickness of Descemet s membrane." [] |
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