| 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:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000268 | Dolichocephaly | |
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| HP:0000280 | Coarse facial features | |
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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:0000340 | Sloping forehead | "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators] |
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| HP:0000470 | Short neck | |
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| HP:0000717 | Autism | |
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| HP:0000768 | Pectus carinatum | "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators] |
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| HP:0000882 | Hypoplastic scapulae | |
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| HP:0000884 | Prominent sternum | |
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| HP:0000911 | Flat glenoid fossa | |
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| HP:0000914 | Shield chest | |
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| HP:0000920 | Enlargement of the costochondral junction | |
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| HP:0000926 | Platyspondyly | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0001169 | Broad hands | |
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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: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:0001498 | Carpal bone hypoplasia | |
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| HP:0001552 | Barrel-shaped chest | |
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| HP:0001769 | Broad feet | "Increased width of the feet." [HPO:curators] |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002515 | Waddling gait | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002681 | Deformed sella turcica | |
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| HP:0002684 | Thickened calvaria | "The presence of an abnormally thick calvaria." [HPO:curators] |
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| HP:0002692 | Hypoplastic facial bones | |
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| HP:0002808 | Kyphosis | |
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| HP:0002827 | Dislocated hips | |
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| HP:0002857 | Genu valgum | |
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| HP:0002866 | Hypoplastic iliac wings | |
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| HP:0002867 | Abnormality of the ilium | "An abnormality of the ilium, the largest and uppermost bone of the pelvis." [HPO:curators] |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0002942 | Thoracic kyphosis | |
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| HP:0002970 | Genu varum | |
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| HP:0002983 | Micromelia | |
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| HP:0003019 | Abnormality of the wrist | "Abnormalitly of the wrist, the structure connecting the hand and the forearm." [HPO:curators] |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003180 | Flat acetabular roofs | |
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| HP:0003183 | Wide pubic symphysis | "Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones." [HPO:curators] |
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| HP:0003274 | Hypoplastic acetabulae | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003311 | Hypoplastic odontoid process | |
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| HP:0003375 | Narrow greater sacrosciatic notches | "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [HPO:curators] |
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| HP:0003416 | Spinal canal stenosis | |
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| HP:0003467 | Atlantoaxial instability | |
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| HP:0003521 | Short stature, disproportionate (short trunk) | |
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| HP:0003834 | Shoulder dislocation | "A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation." [HPO:curators] |
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| HP:0004568 | Beaking of vertebral bodies | |
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| HP:0004997 | Multicentric ossification of proximal humeral epiphyses | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006450 | Multicentric ossification of proximal femoral epiphyses | |
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| HP:0007018 | Attention deficit hyperactivity disorder | "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
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| HP:0008786 | Irregular, lacy iliac crests | "Lace-like irregularity of the iliac crest." [HPO:curators] |
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| HP:0008829 | Delayed femoral head ossification | |
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| HP:0008835 | Multicentric femoral head ossification | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0008905 | Rhizomelic short stature | |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a ball-in-a-socket appearance. The related entity angel-shaped epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] |
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| HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
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| HP:0010582 | Irregular epiphyses | |
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| HP:0010743 | Hypoplasia of the metatarsal bones | |
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| HP:0011344 | Severe global developmental delay | "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
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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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