| 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:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000054 | Micropenis | |
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| HP:0000083 | Renal failure | |
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| HP:0000110 | Renal dysplasia | |
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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:0000238 | Hydrocephalus | |
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| HP:0000276 | Long face | |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000368 | Low-set, posteriorly rotated ears | |
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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:0000377 | Abnormal form of ears | "Abnormal form of the out part of the ear (also referred to as the auricle or pinna)." [HPO:curators] |
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| HP:0000396 | Overfolded helices | "A condition in which the upper edge of the ear is folded over to a greater degree than normal." [HPO:curators] |
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| HP:0000426 | Prominent nasal bridge | |
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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:0000480 | Retinal coloboma | |
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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:0000496 | Abnormality of eye movement | "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000545 | Myopia | |
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| HP:0000556 | Retinal dystrophy | |
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| HP:0000572 | Visual loss | |
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| HP:0000589 | Coloboma | "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [HPO:probinson] |
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| HP:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
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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:0000657 | Oculomotor apraxia | |
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| HP:0000773 | Short ribs | |
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| HP:0000774 | Narrow chest | |
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| HP:0000776 | Diaphragmatic hernia | "Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period." [HPO:curators] |
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| HP:0000803 | Renal cortical cysts | |
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| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
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| HP:0000890 | Long clavicles | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001161 | Polydactyly (hands) | |
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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:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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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: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:0001265 | Hyporeflexia | |
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| HP:0001273 | Abnormality of the corpus callosum | "Abnormality of the corpus callosum, which is a broad thick band of nerve fibers that connects the right and left cerebral hemispheres." [HPO:curators] |
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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:0001305 | Dandy-Walker malformation | "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the body s ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:curators] |
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| HP:0001320 | Cerebellar vermis hypoplasia | |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001331 | Absent septum pellucidum | "Absence of the septum pellucidum." [HPO:curators] |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001344 | Absent speech development | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001591 | Bell-shaped chest | |
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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:0001696 | Situs inversus | "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators] |
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| HP:0001789 | Hydrops fetalis | |
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| HP:0001829 | Polydactyly (feet) | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002084 | Encephalocele | |
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| HP:0002085 | Occipital encephalocele | |
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| HP:0002089 | Pulmonary hypoplasia | |
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| HP:0002100 | Aspiration pneumonia | |
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| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
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| HP:0002126 | Polymicrogyria | "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] |
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| HP:0002134 | Abnormality of the basal ganglia | "Abnormality of the basal ganglia, which are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal." [HPO:curators] |
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| HP:0002195 | Dysgenesis or agenesis of the cerebellar vermis | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002251 | Congenital megacolon | "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators] |
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| HP:0002280 | Enlarged cisterna magna | |
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| HP:0002323 | Anencephaly | |
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| HP:0002419 | Molar tooth sign on MRI | |
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| HP:0002435 | Meningocele | |
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| HP:0002516 | Increased intracranial pressure | |
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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:0002789 | Tachypnea | |
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| HP:0002876 | Tachypnea, episodic | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0002983 | Micromelia | |
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| HP:0003170 | Abnormality of the acetabulum | "An abnormality of the acetabulum, which together with the head of the femur forms the hip joint." [HPO:curators] |
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| HP:0003312 | Abnormal form of the vertebral bodies | |
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| HP:0003411 | Irregular proximal femoral metaphyses | |
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| HP:0004422 | Biparietal narrowing | "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [HPO:curators] |
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| HP:0004629 | small cervical vertebral bodies | |
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| HP:0004719 | enlarged, hyperechogenic kidneys | |
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| HP:0004991 | rhizomelic arm shortening | |
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| HP:0005257 | Thoracic hypoplasia | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005989 | Redundant neck skin | |
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| HP:0006528 | Chronic lung disease | |
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| HP:0006610 | Wide intermamillary distance | |
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| HP:0006660 | Aplastic clavicles | |
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| HP:0006668 | Twelfth rib hypoplasia | |
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| HP:0006956 | Dilation of lateral ventricles | |
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| HP:0006989 | Dysplastic corpus callosum | |
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| HP:0007033 | Cerebellar dysplasia | |
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| HP:0007082 | Enlarged lateral and third ventricles | |
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| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | "Absence or underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0008445 | Narrow cervical spinal canal | |
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| HP:0008797 | Early ossification of capital femoral epiphyses | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0009921 | Duane anomaly | "Duane anomaly is a congenital eye movement impairment with limitation of the ability to adduct or abduct the eye. When affected eyes are adducted (moved inwards towards the nose), the eyeball retracts and the palpebral fissure narrows." [HPO:curators] |
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| HP:0010013 | Abnormality of the 5th metacarpal | "Any abnormality of the fifth metacarpal bone." [HPO:curators] |
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| HP:0010442 | Polydactyly | |
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| HP:0010579 | Cone-shaped epiphyses | |
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| HP:0011933 | Elongated superior cerebellar peduncle | "Increased length of the `superior cerebellar peduncle` (FMA:72495)." [HPO:probinson] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012106 | Rhizomelic leg shortening | "Disproportionate shortening of the proximal segment of the leg (i.e. the femur)." [HPO:probinson] |
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| HP:0012795 | Abnormality of the optic disc | "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." [HPO:probinson] |
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| HP:0030048 | Colpocephaly | "Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles." [] |
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| HP:0031528 | Subretinal deposits | "Deposits accumulating between the outer retina and the retinal pigment epithelium." [] |
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| HP:0100258 | Preaxial polydactyly | "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe." [HPO:probinson] |
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| HP:0100259 | Postaxial polydactyly | "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe." [HPO:probinson] |
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| HP:0100954 | Open operculum | "Underdevelopment of the operculum." [HPO:sdoelken] |
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