| 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: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:0000023 | Inguinal hernia | |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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| HP:0000162 | Glossoptosis | |
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| HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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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:0000201 | Pierre-Robin sequence | |
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| HP:0000211 | Trismus | "Limitation in the ability to open the mouth." [HPO:curators] |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000280 | Coarse facial features | |
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| HP:0000311 | Round face | "An unusually round appearance of the face." [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:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
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| HP:0000339 | Pugilistic facies | |
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| HP:0000343 | Long philtrum | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [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:0000403 | Recurrent otitis media | |
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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:0000410 | Mixed hearing loss | |
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| HP:0000414 | Bulbous nose | |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000470 | Short neck | |
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| HP:0000474 | Excess nuchal skin | |
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| HP:0000476 | Cystic hygroma of the neck | "A cystic lymphatic lesion of the neck." [HPO:curators] |
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| HP:0000488 | Retinopathy | |
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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:0000508 | Ptosis | "Drooping of the eyelid." [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:0000541 | Detached retina | |
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| HP:0000545 | Myopia | |
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| HP:0000572 | Visual loss | |
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| HP:0000618 | Blindness | |
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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:0000655 | Vitreoretinal degeneration | |
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| HP:0000750 | Impaired language development | |
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| HP:0000766 | Abnormality of the sternum | |
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| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
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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:0000773 | Short ribs | |
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| HP:0000774 | Narrow chest | |
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| HP:0000882 | Hypoplastic scapulae | |
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| HP:0000883 | Thin ribs | |
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| HP:0000888 | Short, horizontal ribs | |
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| HP:0000907 | Anterior rib cupping | |
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| HP:0000926 | Platyspondyly | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0000946 | Hypoplastic ilia | |
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| HP:0000947 | Dumbbell-shaped long bones | |
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| HP:0000969 | Edema | "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] |
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| HP:0001083 | Ectopia lentis | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001162 | Postaxial polydactyly (hands) | "Supernumerary digits located at the ulnar side of the hand." [HPO:curators] |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001169 | Broad hands | |
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| HP:0001191 | Abnormality of the carpal bones | "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)." [HPO:curators] |
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| HP:0001248 | Short tubular bones (hand) | |
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| HP:0001249 | Mental retardation | |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001270 | Motor retardation | |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001371 | Contractures | |
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| HP:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001377 | Limited elbow extension | |
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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:0001507 | Growth abnormality | |
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| HP:0001519 | Dolichostenomelia | "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [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:0001538 | Protuberant abdomen | "A thrusting or bulging out of the abdomen." [HPO:curators] |
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| HP:0001552 | Barrel-shaped chest | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001634 | Mitral valve prolapse | |
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| HP:0001636 | Tetralogy of Fallot | "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:curators] |
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| HP:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
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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:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001789 | Hydrops fetalis | |
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| HP:0001798 | Anonychia | "Total absence of nails." [HPO:curators] |
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| HP:0001831 | Brachydactyly (feet) | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002089 | Pulmonary hypoplasia | |
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| HP:0002091 | Restrictive lung disease | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002194 | Delayed gross motor development | |
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| HP:0002318 | Cervical myelopathy | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002515 | Waddling gait | |
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| HP:0002644 | Abnormality of the pelvis | "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002651 | Spondyloepimetaphyseal dysplasia | |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002655 | Spondyloepiphyseal dysplasia | |
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| HP:0002656 | Epiphyseal dysplasia | |
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| HP:0002657 | Spondylometaphyseal dysplasia | |
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| HP:0002663 | Late ossifying epiphyses | |
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| HP:0002673 | Coxa valga | "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators] |
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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:0002751 | Kyphoscoliosis | |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002761 | Generalized joint laxity | "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators] |
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| HP:0002777 | Tracheal stenosis | |
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| HP:0002779 | Tracheomalacia | |
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| HP:0002808 | Kyphosis | |
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| HP:0002812 | Coxa vara | |
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| HP:0002827 | Dislocated hips | |
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| HP:0002829 | Arthralgia | |
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| HP:0002857 | Genu valgum | |
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| HP:0002866 | Hypoplastic iliac wings | |
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| HP:0002868 | Narrow iliac wings | |
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| HP:0002879 | Anisospondyly | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0002942 | Thoracic kyphosis | |
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| HP:0002945 | Narrow intervertebral spaces | |
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| HP:0002970 | Genu varum | |
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| HP:0002983 | Micromelia | |
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| HP:0002991 | Abnormality of the fibula | |
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| HP:0002996 | Limited elbow movement | |
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| HP:0003015 | Metaphyseal flaring | "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] |
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| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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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: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:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003026 | Short long bones | |
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| HP:0003037 | Enlarged joints | |
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| HP:0003040 | Arthropathy | |
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| HP:0003071 | Flattened epiphyses | |
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| HP:0003088 | Premature osteoarthritis | |
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| HP:0003090 | Small capital femoral epiphyses | |
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| HP:0003097 | Short femur | "An abnormal shortening of the thigh bones." [HPO:curators] |
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| HP:0003173 | Hypoplastic pubic bones | |
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| HP:0003175 | Hypoplastic ischia | |
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| HP:0003180 | Flat acetabular roofs | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
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| HP:0003273 | Hip contractures | |
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| HP:0003300 | Ovoid vertebral bodies | |
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| HP:0003301 | Irregular vertebral endplates | "An irregular surface of the vertebral end plates, which are normally relatively smooth." [HPO:curators] |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003311 | Hypoplastic odontoid process | |
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| HP:0003320 | C1-C2 subluxation | "A partial dislocation of the intervertebral joint between the first and second cervical vertebrae." [HPO:curators] |
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| HP:0003336 | Arrest of endochondral ring structures with persistence of circumferential growth | |
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| HP:0003370 | Flat capital femoral epiphyses | |
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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:0003417 | Coronal cleft vertebrae | |
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| HP:0003422 | Vertebral segmentation defects | |
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| HP:0003498 | Short stature, disproportionate | |
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| HP:0003502 | Mild short stature | "A mild degree of short stature." [HPO:curators] |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0003521 | Short stature, disproportionate (short trunk) | |
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| HP:0003826 | Stillborn or neonatal death | |
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| HP:0004039 | Abnormality of ulnar metaphysis | |
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| HP:0004180 | Hypoplastic/small distal phalanx of the 3rd finger | "Hypoplastic/small distal phalanx of the 3rd (middle) finger." [HPO:curators] |
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| HP:0004227 | Hypoplastic/small distal phalanx of the 5th finger | "Hypoplastic/small distal phalanx of the 5th (little) finger." [HPO:curators] |
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| HP:0004279 | Hypoplastic hand | |
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| HP:0004298 | Abnormality of the abdominal wall | "The presence of any abnormality affecting the abdominal wall." [HPO:curators] |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004327 | Abnormality of the vitreous humor | |
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| HP:0004565 | severe platyspondyly | |
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| HP:0004568 | Beaking of vertebral bodies | |
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| HP:0004591 | Disc-like vertebral bodies | |
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| HP:0004605 | Absent vertebral body mineralization | |
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| HP:0004619 | lumbar kyphoscoliosis | |
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| HP:0004679 | Large tarsal bones | |
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| HP:0005003 | Absent-small capital femoral epiphyses | |
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| HP:0005068 | absent styloid processes | |
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| HP:0005086 | Knee osteoarthritis | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005451 | Decreased cranial base ossification | |
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| HP:0005622 | Widened long bones with translucent metaphyseal flaring | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005701 | Multiple enchondromatosis | |
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| HP:0005716 | Lethal skeletal dysplasia | |
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| HP:0005743 | Abnormal femoral head with degenerative changes | |
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| HP:0005863 | Type E brachydactyly | |
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| HP:0005868 | Metaphyseal enchondromatosis | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006110 | Disproportionately short middle phalanges | |
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| HP:0006144 | Short proximal and middle phalanges | |
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| HP:0006172 | Flattened, squared-off epiphyses of tubular bones | |
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| HP:0006237 | Prominent interphalangeal joints | |
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| HP:0006361 | Irregular femoral epiphyses | |
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| HP:0006406 | Club-shaped proximal femurs | |
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| HP:0006532 | Pneumonia, recurrent episodes | |
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| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
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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:0007973 | Retinal dysplasia | |
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| HP:0008142 | Absent talus and calcaneal ossification in infancy | |
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| HP:0008271 | Abnormal cartilage collagen on EM | |
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| HP:0008587 | Mild neurosensory hearing loss | |
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| HP:0008788 | Delayed pubic bone ossification | |
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| HP:0008800 | Limited hip movement | |
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| HP:0008819 | Narrow, short femoral neck | "An abnormally short and narrow femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:curators] |
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| HP:0008839 | Hypoplastic pelvis | |
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| HP:0008843 | Hip osteoarthritis | |
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| HP:0008857 | Short-trunk dwarfism identifiable at birth | |
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| HP:0008873 | Short stature, disproportionate short-limbed | "A type of short stature characterized by a short limbs but an average-sized trunk." [HPO:curators] |
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| HP:0008905 | Rhizomelic short stature | |
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| HP:0008921 | Neonatal short-limbed dwarfism | |
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| HP:0008936 | Muscular hypotonia of the trunk | "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators] |
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| HP:0009290 | Hypoplastic/small distal phalanx of the 4th finger | "Hypoplastic/small distal phalanx of the 4th (ring) finger." [HPO:curators] |
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| HP:0009566 | Hypoplastic/small distal phalanx of the 2nd finger | |
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| HP:0009778 | Hypoplastic/small thumb | |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0009882 | Hypoplasia of the distal 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:0010454 | Acetabular spurs | "The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum." [HPO:curators] |
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| HP:0010501 | Limitation of knee mobility | "An abnormal limitation of knee joint mobility." [HPO:curators] |
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| HP:0010579 | Cone-shaped epiphyses | |
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| HP:0010743 | Hypoplasia of the metatarsal bones | |
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| HP:0010885 | Aseptic necrosis | "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken] |
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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:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
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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:0011819 | Submucous cleft soft palate | "A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue." [HPO:probinson] |
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| HP:0011860 | Metaphyseal dappling | "The presence of spots or rounded patches of abnormally increased density of metaphyseal bone." [HPO:probinson] |
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| HP:0012221 | Pretibial blistering | "A type of blistering that affects the skin of the tibial region." [HPO:probinson, pmid:15265795] |
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| HP:0012230 | Rhegmatogenous retinal detachment | "A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." [HPO:probinson] |
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| HP:0012313 | Heberden s node | "Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage thzat are visible radiographically." [HPO:probinson, pmid:10531070, pmid:9709182] |
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| HP:0012368 | Flat face | "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] |
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| HP:0025258 | Stiff neck | "A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side." [] |
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| HP:0030041 | Schmorl s node | "A Schmorl???s node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra. " [] |
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| HP:0030329 | Retinal thinning | "Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT)." [HPO:probinson] |
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| HP:0030672 | Asteroid hyalosis | "The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits." [] |
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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:0040160 | Generalized osteoporosis | |
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| HP:0100255 | Metaphyseal dysplasia | "The presence of dysplastic regions in metaphyseal bones." [HPO:sdoelken] |
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| HP:0100541 | Femoral hernia | "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal." [HPO:sdoelken] |
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| HP:0100559 | Lower limb asymmetry | |
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| HP:0100625 | Enlarged thorax | |
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| HP:0100734 | Abnormality of the vertebral epiphyses | |
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| HP:0100773 | Cartilage destruction | |
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| HP:0100777 | Exostoses | |
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| HP:0100864 | Hypoplasia of the femoral neck | |
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| HP:0200003 | Splayed epiphyses | |
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| HP:0200041 | skin erosion | "A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed." [HPO:SKOEHLER] |
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| HP:0200083 | Severe limb shortening | |
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