| 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:0000035 | Abnormality of the testis | |
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| HP:0000044 | Hypogonadotrophic hypogonadism | "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [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:0000073 | Ureteral duplication | "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [HPO:curators] |
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| HP:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
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| HP:0000144 | Decreased fertility | |
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| HP:0000147 | polycystic ovaries | |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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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:0000176 | Submucous cleft palate | "A cleft palate that is covered by the mucous membrane of the roof of the mouth, which can make the cleft more difficult to observe upon physical examination. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate. It may be possible to detect a submucous cleft palate upon palpation as a notch in the bony palate." [HPO:curators, pmid:19779505] |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000233 | Thin vermillion border | |
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| HP:0000239 | Large fontanelles | "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators] |
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| HP:0000270 | Delayed closure of fontanelles | "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:curators] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000275 | Narrow face | |
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| HP:0000278 | Retrognathia | |
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| HP:0000287 | Normal or increased facial adipose tissue | |
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| HP:0000293 | Full cheeks | |
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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:0000320 | Bird-like facies | |
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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: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:0000400 | Large ears | |
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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:0000418 | Pinched nose | |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000444 | Beaked nose | |
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| HP:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] |
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| HP:0000465 | Webbed neck | |
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| HP:0000467 | Neck muscle weakness | |
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| HP:0000468 | Normal or increased adipose tissue around the neck | |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [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:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
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| HP:0000520 | Proptosis | |
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| HP:0000534 | Abnormality of the eyebrow | "An abnormality of the `eyebrow` (FMA:54237)." [HPO:probinson] |
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| HP:0000535 | Sparse eyebrows | |
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| HP:0000540 | Hypermetropia | |
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| HP:0000546 | Retinal degeneration | |
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| HP:0000561 | Absent eyelashes | "Lack of eyelashes." [HPO:curators] |
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| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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| HP:0000621 | Entropion | "An abnormal turning inward of the upper and/or lower eyelid." [HPO:sdoelken] |
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| HP:0000653 | Sparse eyelashes | "Decreased density/number of eyelashes." [pmid:19125427] |
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| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000678 | Dental overcrowding | |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000685 | Hypoplastic teeth | |
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| HP:0000695 | Neonatal teeth | |
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| HP:0000774 | Narrow chest | |
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| HP:0000789 | Infertility | |
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| HP:0000815 | Hypergonadotropic hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators] |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000823 | Delayed puberty | |
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| HP:0000826 | Precocious puberty | "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:curators] |
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| HP:0000831 | Insulin-resistant diabetes mellitus | |
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| HP:0000833 | Glucose intolerance | |
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| HP:0000835 | Adrenal hypoplasia | |
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| HP:0000842 | Hyperinsulinemia | |
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| HP:0000855 | Insulin resistance | |
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| HP:0000869 | Secondary amenorrhea | |
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| HP:0000877 | Insulin-resistant diabetes mellitus at puberty | |
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| HP:0000883 | Thin ribs | |
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| HP:0000894 | Short clavicles | |
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| HP:0000905 | Progressive acroosteolysis of the clavicle | |
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| HP:0000934 | Chondrocalcinosis | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0000953 | Hyperpigmentation | |
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| HP:0000956 | Acanthosis nigricans | |
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| HP:0000961 | Cyanosis | |
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| HP:0000962 | Hyperkeratosis | "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators] |
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| HP:0000963 | Thin skin | |
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| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| HP:0000991 | Xanthomatosis | "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." [HPO:curators] |
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| HP:0001006 | Hypotrichosis | "Reduced or lacking hair growth." [HPO:curators] |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001015 | Prominent superficial veins | |
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| HP:0001043 | Prominent scalp veins | |
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| HP:0001070 | Mottled pigmentation | |
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| HP:0001097 | Keratoconjunctivitis sicca | "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001196 | Short umbilical cord | |
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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: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:0001270 | Motor retardation | |
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| HP:0001279 | Syncope | "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators] |
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| HP:0001284 | Areflexia | |
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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:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| HP:0001371 | Contractures | |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001385 | Hip dysplasia | |
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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:0001397 | Hepatic steatosis | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001510 | Growth retardation | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001522 | Death in infancy | |
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| HP:0001558 | Decreased fetal movement | "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
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| HP:0001601 | Laryngomalacia | |
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| HP:0001608 | Abnormality of the voice | "Any abnormality of the voice." [HPO:curators] |
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| HP:0001611 | Nasal speech | |
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| HP:0001620 | High pitched voice | |
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| HP:0001622 | Premature birth | |
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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:0001634 | Mitral valve prolapse | |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001643 | Patent ductus arteriosus | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001645 | Sudden cardiac death | |
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| HP:0001650 | Aortic stenosis | "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators] |
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| HP:0001651 | Dextrocardia | "A left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side in stead of the left." [HPO:sdoelken] |
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| HP:0001653 | Mitral regurgitation | "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] |
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| HP:0001657 | Prolonged QT interval on EKG | |
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| HP:0001658 | Myocardial infarction | |
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| HP:0001662 | Bradycardia | |
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| HP:0001669 | Transposition of the great vessels | |
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| HP:0001677 | Coronary artery disease | |
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| HP:0001681 | Angina pectoris | |
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| HP:0001692 | Atrial arrhythmias | |
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| HP:0001698 | Pericardial effusion | |
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| HP:0001712 | Left ventricular hypertrophy | |
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| HP:0001714 | Ventricular hypertrophy | |
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| HP:0001733 | Pancreatitis | |
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| HP:0001735 | Pancreatitis, acute | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [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:0001761 | Pes cavus | |
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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:0001771 | Achilles tendon contractures | |
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| HP:0001788 | Premature rupture of membranes | "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor." [HPO:probinson] |
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| HP:0001799 | Short nails | |
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| HP:0001808 | Fragile nails | |
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| HP:0001816 | Thin nails | |
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| HP:0001838 | Vertical talus | |
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| HP:0001870 | Acroosteolysis of distal phalanges (feet) | |
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| HP:0001883 | Talipes | |
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| HP:0001894 | Thrombocytosis | |
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| HP:0002089 | Pulmonary hypoplasia | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002097 | Emphysema | |
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| HP:0002136 | Broad-based gait | "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators] |
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| HP:0002155 | Hypertriglyceridemia | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002170 | Intracranial hemorrhage | "A hemorrhage (bleeding) occuring within the skull." [HPO:curators] |
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| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
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| HP:0002211 | White forelock | |
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| HP:0002216 | Premature graying of hair | |
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| HP:0002223 | Absent eyebrows | |
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| HP:0002230 | Generalized hirsutism | "Abnormally increased hair growth over much of the entire body." [HPO:curators] |
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| HP:0002231 | Sparse body hair | "Sparseness of the body hair." [HPO:probinson] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002289 | Alopecia, complete | |
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| HP:0002326 | Transient ischemic attack | |
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| HP:0002355 | Difficulty walking | |
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| HP:0002421 | Poor head control | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002515 | Waddling gait | |
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| HP:0002557 | Hypoplastic nipples | |
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| HP:0002616 | Aortic root dilatation | |
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| HP:0002621 | Atherosclerosis | "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:curators] |
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| HP:0002645 | Wormian bones | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002669 | Osteogenic sarcoma | |
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| HP:0002671 | Basal cell carcinoma | |
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| HP:0002692 | Hypoplastic facial bones | |
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| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0002753 | Thin bony cortex | "Abnormal thinning of the cortical region of bones." [HPO:curators] |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002797 | Osteolysis | |
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| HP:0002804 | Arthrogryposis multiplex congenita | |
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| HP:0002808 | Kyphosis | |
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| HP:0002827 | Dislocated hips | |
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| HP:0002828 | Multiple joint contractures | |
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| HP:0002829 | Arthralgia | |
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| HP:0002858 | Meningioma | |
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| HP:0002905 | Hyperphosphatemia | |
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| HP:0002936 | Distal sensory impairment | |
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| HP:0002987 | Elbow contractures | |
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| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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| HP:0003074 | Hyperglycemia | |
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| HP:0003076 | Glycosuria | "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators] |
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| HP:0003077 | Hyperlipidemia | |
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| HP:0003124 | Hypercholesterolemia | |
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| HP:0003141 | Increased beta-lipoproteins | "An increase in the blood concentration of beta lipoprotein, which is a low-density lipoprotein involved in the blood transport of cholesterol." [HPO:curators] |
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| HP:0003198 | Myopathy | |
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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:0003233 | Decreased HDL cholesterol | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003292 | Decreased serum leptin | |
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| HP:0003300 | Ovoid vertebral bodies | |
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| HP:0003306 | Spinal rigidity | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003325 | Limb-girdle muscle weakness | "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis." [HPO:curators] |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003327 | Axial muscle weakness | "Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)." [HPO:curators] |
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| HP:0003355 | Abnormal urinary amino-acid findings | |
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| HP:0003376 | Steppage gait | "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:curators] |
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| HP:0003378 | Axonal degeneration/regeneration on nerve biopsy | |
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| HP:0003380 | Decreased number of myelinated fibers | "A loss of myelinated nerve fibers (in general, this finding can be observed on nerve biopsy)." [HPO:curators] |
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| HP:0003383 | Onion bulb formations on nerve biopsy | |
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| HP:0003384 | Axonal atrophy on nerve biopsy | |
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| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| HP:0003458 | EMG myopathic abnormalities | "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] |
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| HP:0003484 | Upper limb involvement may occur later | |
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| HP:0003547 | Shoulder girdle muscle weakness | "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [HPO:curators] |
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| HP:0003551 | Difficulty climbing stairs | |
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| HP:0003560 | Muscular dystrophy | "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators] |
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| HP:0003621 | Juvenile onset | |
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| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | |
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| HP:0003674 | Age of onset | |
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| HP:0003676 | Progressive disorder | |
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| HP:0003677 | Slow progression | |
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| HP:0003691 | Scapular winging | |
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| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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| HP:0003700 | Generalized amyotrophy | "Generalized wasting of loss of muscle tissue." [HPO:curators] |
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| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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| HP:0003712 | Muscle hypertrophy | "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators] |
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| HP:0003717 | Minimal subcutaneous fat | |
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| HP:0003738 | Exercise-induced myalgia | "The occurrence of an unusually high amount of muscle pain following exercise." [HPO:curators] |
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| HP:0003741 | Congenital muscular dystrophy | |
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| HP:0003749 | Pelvic girdle muscle weakness | "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis." [HPO:curators] |
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| HP:0003758 | Reduced subcutaneous adipose tissue | "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [HPO:curators] |
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| HP:0003761 | Calcinosis | "Formation of calcium deposits in any soft tissue." [HPO:curators] |
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| HP:0003777 | Pili torti | "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." [HPO:curators] |
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| HP:0003797 | Limb-girdle muscle atrophy | "Muscular atrophy affecting the muscles of the limb girdle." [HPO:curators] |
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| HP:0003826 | Stillborn or neonatal death | |
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| HP:0003828 | Variable expressivity | |
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| HP:0004054 | Sclerosis of hand bones | "Osteosclerosis affecting one or more bones of the hand." [HPO:curators] |
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| HP:0004279 | Hypoplastic hand | |
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| HP:0004308 | Ventricular arrhythmia | |
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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:0004326 | Cachexia | |
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| HP:0004331 | Decreased skull ossification | "A reduction in the magnitude or amount of ossification of the skull." [HPO:curators] |
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| HP:0004334 | Dermal atrophy | "Partial or complete wasting (atrophy) of the skin." [HPO:curators] |
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| HP:0004361 | Abnormal regulation of fat tissue metabolism | |
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| HP:0004380 | Aortic valve calcification | |
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| HP:0004382 | Mitral valve calcification | |
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| HP:0004388 | Microcolon | |
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| HP:0004414 | Abnormality of the pulmonary artery | |
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| HP:0004416 | Precocious atherosclerosis | |
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| HP:0004417 | Intermittent claudication | |
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| HP:0004492 | Widely patent fontanels and sutures | "An abnormally increased width of the cranial sutures of striking degree." [HPO:curators] |
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| HP:0004631 | Decreased cervical spine flexion due to contractures of posterior cervical muscles | |
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| HP:0004749 | Atrial fibrillation or flutter | |
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| HP:0004931 | small cerebral arteries show arteriosclerotic changes | |
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| HP:0004943 | Accelerated atherosclerosis | |
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| HP:0004950 | Peripheral arterial disease | |
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| HP:0004970 | Ascending aortic dilation | |
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| HP:0005109 | Abnormality of the Achilles tendon | |
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| HP:0005110 | Atrial fibrillation | |
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| HP:0005115 | Supraventricular arrhythmia | |
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| HP:0005150 | Atrioventricular conduction disturbances | |
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| HP:0005177 | Premature arteriosclerosis | |
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| HP:0005181 | Premature coronary artery disease | |
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| HP:0005253 | Increased anterioposterior diameter of chest | |
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| HP:0005267 | Premature delivery because of cervical insufficiency or membrane fragility | |
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| HP:0005328 | Progeroid facial appearance | |
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| HP:0005339 | Abnormality of complement | |
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| HP:0005461 | Craniofacial disproportion | |
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| HP:0005474 | Poorly ossified calvaria | "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)." [HPO:curators] |
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| HP:0005595 | Hyperkeratosis, generalized | |
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| HP:0005659 | Thoracic kyphoscoliosis | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005978 | Noninsulin-dependent diabetes mellitus | |
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| HP:0005997 | Restricted neck movement due to contractures | |
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| HP:0006224 | Tapered, pointed distal phalanges | |
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| HP:0006266 | Small or abnormal placenta | |
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| HP:0006267 | Placental enlargement | |
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| HP:0006288 | Premature eruption of teeth | |
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| HP:0006391 | Overtubulated long bones | |
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| HP:0006480 | Premature loss of teeth | |
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| HP:0006585 | Thin, dysplastic bipartite clavicles | |
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| HP:0006645 | Thin, long clavicles | |
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| HP:0006660 | Aplastic clavicles | |
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| HP:0006710 | Aplasia/Hypoplasia of the clavicles | "Absence or underdevelopment of the clavicles (collar bones)." [HPO:curators] |
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| HP:0006739 | Squamous cell carcinoma of the skin | "Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium." [HPO:curators] |
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| HP:0006766 | Papillary renal cell carcinoma | |
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| HP:0006785 | Limb-girdle muscular dystrophy | "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders)." [HPO:curators] |
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| HP:0006824 | Cranial nerve paralysis | |
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| HP:0006829 | Severe muscular hypotonia | "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators] |
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| HP:0007394 | Prominent superficial blood vessels | |
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| HP:0007427 | Reticulated skin pigmentation | |
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| HP:0007485 | Absence of subcutaneous fat | |
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| HP:0007509 | Patchy hypo- and hyperpigmentation | |
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| HP:0007543 | Epidermal hyperkeratosis | |
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| HP:0007592 | Hypoplastic-absent eccrine sweat glands | |
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| HP:0007618 | Subcutaneous calcification | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0008069 | Neoplasia of the skin | |
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| HP:0008070 | Sparse hair | |
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| HP:0008151 | Prolonged prothrombin and partial thromboplastin times | |
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| HP:0008180 | Mildly elevated creatine phosphokinase | |
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| HP:0008197 | Absence of pubertal development | |
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| HP:0008209 | Premature ovarian failure | |
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| HP:0008214 | Decreased serum estradiol | |
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| HP:0008230 | Decreased testosterone in males | |
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| HP:0008244 | Congenital adrenal gland hypoplasia | |
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| HP:0008283 | Hyperinsulinemia, fasting | |
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| HP:0008419 | Degeneration of intervertebral disks | |
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| HP:0008739 | Labial pseudohypertrophy | |
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| HP:0008887 | Adipose tissue loss | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0008944 | Distal lower limb muscle weakness and atrophy | "Amyotrophy of distal lower leg muscles with resultant weakness." [HPO:curators] |
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| HP:0008946 | Pelvic girdle weakness and atrophy | |
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| HP:0008968 | Muscle hypertrophy of the lower extremities | "Muscle hypertrophy primarily affecting the legs." [HPO:curators] |
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| HP:0008981 | Muscular hypertrophy, esp calf muscles | "Muscle hypertrophy primarily affecting the calf muscles." [HPO:curators] |
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| HP:0008985 | Increased intramuscular fat | "An abnormal increase in the amount of intramuscular fat tissue." [HPO:curators] |
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| HP:0008993 | Increased intraabdominal fat | "An abnormal increase in the amount of intraabdominal fat tissue." [HPO:curators] |
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| HP:0008997 | Proximal muscle weakness in upper limbs | "A lack of strength of the proximal muscles of the arms." [HPO:curators] |
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| HP:0009002 | Loss of subcutaneous truncal adipose tissue | |
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| HP:0009027 | Foot dorsiflexor weakness | |
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| HP:0009046 | Difficulty walking, running, climbing stairs | |
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| HP:0009049 | Peroneal muscle atrophy | "Atrophy of the peroneous muscles, `peroneus longus (also known as Fibularis longus) (FMA:22539), `Peroneus brevis (also known as fibularis brevis` (FMA:22540), and `Peroneus tertius (also known as fibularis tertius` (FMA:22538)." [HPO:probinson] |
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| HP:0009064 | Generalized lipodystrophy | "Generalized degenerative changes of the fat tissue." [HPO:curators] |
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| HP:0009125 | Lipodystrophy | "Degenerative changes of the fat tissue." [HPO:curators] |
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| HP:0009726 | Renal neoplasia | "Tumors, malignant or benign, originating in the kidney." [HPO:curators] |
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| HP:0009771 | Osteolytic defects of the phalanges of the hand | "Dissolution or degeneration of bone tissue of the phalanges of the hand." [HPO:curators] |
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| HP:0009839 | Osteolytic defects of the distal phalanges of the hand | |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0009906 | Aplasia/Hypoplasia of the earlobes | "Absence or underdevelopment of the ear lobes." [HPO:curators] |
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| HP:0009924 | Aplasia/Hypoplasia involving the nose | "Underdevelopment or absence of the nose or parts thereof." [HPO:curators] |
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| HP:0010219 | structural foot deformity | "A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies." [HPO:curators] |
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| HP:0010239 | Aplasia of the middle phalanges of the hand | |
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| HP:0010648 | Dermal translucency | "An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility." [HPO:curator] |
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| HP:0010665 | Bilateral coxa valga | "The presence of bilateral `coxa_valga` (HP:0002673)." [HPO:probinson] |
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| HP:0010721 | Abnormal hair whorl | "An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair)." [HPO:probinson] |
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| HP:0011040 | Abnormality of the intrahepatic bile duct | "An abnormality of the `intrahepatic bile duct` (FMA:15766)." [HPO:probinson] |
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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:0011356 | Regional abnormality of skin | "An abnormality of the skin that is restricted to a particular body region." [DDD:cmoss] |
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| HP:0011414 | Hydropic placenta | "An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement." [HPO:hfirth] |
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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:0011702 | Abnormal electrophysiology of sinoatrial node origin | "An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart." [HPO:probinson] |
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| HP:0011703 | Sinus tachycardia | "Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands." [HPO:probinson, pmid:15763524] |
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| HP:0011727 | Peroneal muscle weakness | "Weakness of the peroneal muscles." [HPO:probinson] |
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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:0011832 | Narrow nasal tip | "Decrease in width of the nasal tip." [pmid:19152422] |
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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:0012084 | Abnormality of skeletal muscle fiber size | "Any abnormality of the size of the `skeletal muscle cell` (FMA:9727)." [HPO:probinson] |
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| HP:0012397 | Aortic atherosclerosis | "The presence of atheromas or atherosclerotic plaques in the `aorta` (FMA:3734)." [HPO:probinson, pmid:16818829] |
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| HP:0012478 | Temporomandibular joint ankylosis | "Fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening." [ORCID:0000-0001-5208-3432] |
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| HP:0012645 | Enlarged peripheral nerve | "Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve." [HPO:probinson] |
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| HP:0012745 | Short palpebral fissure | "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427] |
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| HP:0025354 | Abnormal cellular phenotype | "An anomaly of cellular morphology or physiology." [] |
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| HP:0030053 | Stiff skin | "An induration (hardening) of the skin" [] |
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| HP:0030084 | Clinodactyly | "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] |
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| HP:0030200 | Fatiguable weakness of proximal limb muscles | "A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UK:rheller] |
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| HP:0030445 | Pulmonary carcinoid tumor | "A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma." [HPO:probinson, pmid:21043816, pmid:24179657] |
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| HP:0030685 | Decreased adiponectin level | "A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue." [HPO:probinson] |
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| HP:0040019 | Finger clinodactyly | |
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| HP:0040160 | Generalized osteoporosis | |
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| HP:0040189 | Scaling skin | "Refers to the loss of the outer layer of the epidermis in large, scale-like flakes." [] |
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| HP:0040266 | Proximal upper limb muscle hypertrophy | |
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| HP:0045075 | Sparse eyebrow | "Decreased density/number of eyebrow hairs." [HPO:skoehler] |
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| HP:0100013 | Neoplasia of the breast | |
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| HP:0100031 | Neoplasm of the thyroid gland | "The presence of a `neoplasm` (MPATH:218) of the `thyroid gland` (FMA:9603)." [HPO:probinson] |
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| HP:0100324 | Scleroderma | "A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies." [HPO:sdoelken] |
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| HP:0100362 | Aplasia of the phalanges of the 3rd toe | |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100526 | Neoplasia of the lungs | |
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| HP:0100546 | Carotid stenosis | |
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| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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| HP:0100585 | Teleangiectasia of the skin | |
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| HP:0100601 | Ecplampsia | "An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders." [HPO:sdoelken] |
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| HP:0100607 | Dysmenorrhea | |
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| HP:0100615 | Ovarian neoplasm | "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson] |
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| HP:0100649 | Neoplasia of the oral cavity | |
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| HP:0100658 | Cellulitis | |
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| HP:0100659 | Abnormality of the cerebral vasculature | |
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| HP:0100671 | Abnormality of bone trabeculation | |
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| HP:0100678 | Wrinkled skin | |
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| HP:0100679 | Lack of skin elasticity | |
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| HP:0100783 | Breast aplasia | |
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| HP:0100820 | Glomerulopathy | "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] |
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| HP:0100833 | Neoplasm of the small intestine | "The presence of a `neoplasm` (MPATH:218) of the small intestine." [HPO:probinson] |
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| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | "Absence or underdevelopment of the eyebrow." [HPO:probinson] |
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| HP:0200021 | Rounded shoulders | |
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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:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
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| HP:0200102 | Sparse/absent eyelashes | |
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