| 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:0000365 | Hearing loss | |
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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: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:0000687 | Widely spaced teeth | |
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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:0001376 | Decreased mobility of joints | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [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:0001903 | Anemia | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002878 | Early respiratory failure | |
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| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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| HP:0003306 | Spinal rigidity | |
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| HP:0003468 | Abnormalities of the vertebrae | |
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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:0004629 | small cervical vertebral bodies | |
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| HP:0006429 | Broad femoral neck | "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:Curators] |
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| HP:0008449 | Progressive cervical vertebral spine fusion | |
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| HP:0010034 | Hypoplastic/short 1st metacarpal | "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:0010054 | Abnormality of the 1st metatarsal | "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the first metatarsal." [HPO:curators] |
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| HP:0010058 | Aplasia/Hypoplasia of the phalanges of the hallux | |
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| HP:0010109 | Hypoplastic/small hallux | |
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| HP:0011987 | Ectopic ossification in muscle tissue | "Formation of abnormal bony tissue within `muscle` (FMA:30316) tissue." [HPO:probinson] |
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| HP:0011988 | Ectopic ossification in tendon tissue | "Formation of abnormal bony tissue within `tendon` (FMA:9721) tissue." [HPO:probinson] |
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| HP:0011989 | Ectopic ossification in ligament tissue | "Formation of abnormal bony tissue within `ligament` (FMA:30319) tissue." [HPO:probinson] |
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| HP:0100240 | Synostosis of joints | |
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