| 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:0000262 | Turricephaly | "Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull." [HPO:curators] |
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| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
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| HP:0000470 | Short neck | |
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| HP:0000772 | Abnormality of the ribs | |
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| HP:0000773 | Short ribs | |
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| HP:0000774 | Narrow chest | |
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| HP:0000782 | Abnormality of the scapulae | "Any abnormality of the scapulae (shoulder blades)." [HPO:curators] |
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| HP:0000878 | 11 pairs of ribs | |
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| HP:0000887 | Cupped ribs | |
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| HP:0000926 | Platyspondyly | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001302 | Pachygyria | "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] |
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| HP:0001321 | Cerebellar hypoplasia | |
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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:0001678 | Atrioventricular block | |
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| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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| HP:0001831 | Brachydactyly (feet) | |
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| HP:0002132 | Porencephaly | |
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| HP:0002657 | Spondylometaphyseal dysplasia | |
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| HP:0002663 | Late ossifying epiphyses | |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002869 | Flared iliac wings | |
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| HP:0003021 | Metaphyseal cupping | "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:curators] |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003026 | Short long bones | |
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| HP:0003085 | Disproportionately long fibulae | |
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| HP:0003180 | Flat acetabular roofs | |
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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:0004279 | Hypoplastic hand | |
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| HP:0004491 | Large posterior fontanelle | "An enlargement of the posterior fontanelle relative to age-dependent norms." [HPO:curators] |
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| HP:0004688 | Irregular tarsal bones | |
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| HP:0004991 | rhizomelic arm shortening | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0005871 | Metaphyseal chondrodysplasia | |
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| HP:0006059 | Cone-shaped metacarpal epiphyses | "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a ball-in-a-socket appearance. This epiphyses are located at the distal ends of the metacarpal bones." [HPO:curators] |
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| HP:0006543 | Cardiorespiratory arrest | |
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| HP:0007187 | Focal lissencephaly | |
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| HP:0008786 | Irregular, lacy iliac crests | "Lace-like irregularity of the iliac crest." [HPO:curators] |
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| HP:0008798 | Widened, small sacrosciatic notches | |
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| HP:0008905 | Rhizomelic short stature | |
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| HP:0009381 | Hypoplastic/small fingers | |
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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:0010579 | Cone-shaped epiphyses | |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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| HP:0012819 | Myocarditis | "Inflammation of the myocardium." [HPO:probinson, pmid:21304213, pmid:22185868, pmid:22361396] |
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| HP:0031233 | Horizontal inferior border of scapula | "A morphological abnor,mality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape)." [PMID:24706940] |
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