| 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:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000085 | Horseshoe kidney | |
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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:0000202 | Cleft lip/palate | |
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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:0000289 | Wide philtrum | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000337 | Broad forehead | "Abnormally large side-to-side distance 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:0000426 | Prominent nasal bridge | |
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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:0000437 | Flat nasal tip | |
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| HP:0000473 | Torticollis | |
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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: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:0000537 | Epicanthus inversus | |
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| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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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:0000925 | Abnormality of the vertebral column | "Any abnormality of the spine (vertebral column)." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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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: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:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
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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:0001540 | Diastasis recti | |
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| HP:0002265 | Large fleshy ears | |
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| HP:0002553 | Arched eyebrows | |
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| HP:0002558 | Supernumerary nipples | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002714 | Downturned corners of mouth | "A morphological `abnormality of the mouth` (HP:0000153) in which the `angle of the mouth` (FMA:77269) is downturned." [HPO:probinson] |
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| HP:0002825 | Caudal appendage | "The presence of a tail-like skin appendage located adjacent to the sacrum." [HPO:probinson] |
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| HP:0002827 | Dislocated hips | |
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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:0002996 | Limited elbow movement | |
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| HP:0003298 | Spina bifida occulta | "The closed form of spina bifida." [HPO:curators] |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003468 | Abnormalities of the vertebrae | |
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| HP:0005105 | Abnormal nasal morphology | |
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| HP:0005243 | Partial abdominal muscle agenesis | |
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| HP:0006394 | Limited pronation/supination of forearm | "A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation)." [HPO:curators] |
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| HP:0008689 | Bilateral cryptorchidism | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0009004 | Muscle hypoplasia | "Underdevelopment of the musculature." [HPO:curators] |
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| HP:0010759 | Prominent premaxilla | "Prominent aspect of the `premaxilla` (FMA:76869)." [HPO:sdoelken] |
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| HP:0040016 | Prominent coccyx | |
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