| 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: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: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:0000292 | Loss of facial adipose tissue | "Loss of normal subcutaneous fat tissue in 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: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: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:0000464 | Abnormality of the neck | |
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| HP:0000465 | Webbed 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:0000520 | Proptosis | |
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| HP:0000535 | Sparse eyebrows | |
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| HP:0000540 | Hypermetropia | |
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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:0000789 | Infertility | |
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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: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: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: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:0000963 | Thin skin | |
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| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| HP:0001006 | Hypotrichosis | "Reduced or lacking hair growth." [HPO:curators] |
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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:0001196 | Short umbilical cord | |
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| HP:0001211 | Abnormality of the fingertips | |
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| HP:0001371 | Contractures | |
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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:0001511 | Intrauterine growth retardation | |
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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: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:0001643 | Patent ductus arteriosus | |
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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:0001657 | Prolonged QT interval on EKG | |
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| HP:0001669 | Transposition of the great vessels | |
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| HP:0001681 | Angina pectoris | |
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| HP:0001712 | Left ventricular hypertrophy | |
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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: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:0001894 | Thrombocytosis | |
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| HP:0002089 | Pulmonary hypoplasia | |
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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:0002216 | Premature graying of hair | |
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| HP:0002299 | Fine, brittle hair | |
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| HP:0002326 | Transient ischemic attack | |
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| HP:0002557 | Hypoplastic nipples | |
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| HP:0002645 | Wormian bones | |
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| HP:0002692 | Hypoplastic facial bones | |
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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: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:0002905 | Hyperphosphatemia | |
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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:0003077 | Hyperlipidemia | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003300 | Ovoid vertebral bodies | |
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| HP:0003355 | Abnormal urinary amino-acid findings | |
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| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | |
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| HP:0003761 | Calcinosis | "Formation of calcium deposits in any soft tissue." [HPO:curators] |
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| HP:0003826 | Stillborn or neonatal death | |
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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: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:0004388 | Microcolon | |
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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:0004931 | small cerebral arteries show arteriosclerotic changes | |
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| HP:0004970 | Ascending aortic dilation | |
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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: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:0005995 | Decreased adipose tissue around neck | |
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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: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:0007394 | Prominent superficial blood vessels | |
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| HP:0007427 | Reticulated skin pigmentation | |
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| HP:0007543 | Epidermal hyperkeratosis | |
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| HP:0007592 | Hypoplastic-absent eccrine sweat glands | |
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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:0008197 | Absence of pubertal development | |
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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:0008404 | Nail dystrophy, variable | |
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| HP:0009002 | Loss of subcutaneous truncal adipose tissue | |
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| HP:0009064 | Generalized lipodystrophy | "Generalized degenerative changes of the fat tissue." [HPO:curators] |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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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: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:0010719 | Abnormality of hair texture | "An abnormality of the texture of the `hair` (FMA:53667)." [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: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:0011832 | Narrow nasal tip | "Decrease in width of the nasal tip." [pmid:19152422] |
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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: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:0040189 | Scaling skin | "Refers to the loss of the outer layer of the epidermis in large, scale-like flakes." [] |
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| HP:0045075 | Sparse eyebrow | "Decreased density/number of eyebrow hairs." [HPO:skoehler] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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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:0100671 | Abnormality of bone trabeculation | |
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| HP:0100679 | Lack of skin elasticity | |
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| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | "Absence or underdevelopment of the eyebrow." [HPO:probinson] |
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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:0200102 | Sparse/absent eyelashes | |
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