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:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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HP:0000062 | Ambiguous genitalia | |
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HP:0000104 | Renal agenesis | |
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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:0000136 | Bifid uterus | "A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts." [HPO:curators] |
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HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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HP: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:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
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HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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HP:0000204 | Cleft lip | "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
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HP:0000211 | Trismus | "Limitation in the ability to open the mouth." [HPO:curators] |
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HP:0000232 | Everted lower lip | |
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HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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HP:0000269 | Prominent occiput | |
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HP:0000278 | Retrognathia | |
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HP:0000288 | Abnormality of the philtrum | "An abnormality of the `philtrum` (FMA:59819)." [HPO:probinson] |
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HP:0000316 | Hypertelorism | |
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HP:0000340 | Sloping forehead | "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators] |
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HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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HP:0000400 | Large ears | |
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HP:0000457 | Flat nose | |
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HP:0000470 | Short neck | |
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HP:0000499 | Abnormality of the eyelashes | "An abnormality of the `eyelashes` (FMA:53669)." [HPO:probinson] |
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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:0000561 | Absent eyelashes | "Lack of eyelashes." [HPO:curators] |
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HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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HP:0000614 | Abnormality of the lacrimal duct | |
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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: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:0001059 | Pterygia | "Pterygia are winglike triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [HPO:curators] |
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HP:0001176 | Large hands | |
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HP:0001181 | Adducted thumbs | |
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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:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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HP:0001302 | Pachygyria | "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] |
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HP: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:0001321 | Cerebellar hypoplasia | |
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HP:0001331 | Absent septum pellucidum | "Absence of the septum pellucidum." [HPO:curators] |
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HP:0001339 | Lissencephaly | "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure." [HPO:curators] |
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HP:0001460 | Aplasia/Hypoplasia involving the musculature | "Absence or underdevelopment of the musculature." [HPO:curators] |
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HP:0001510 | Growth retardation | |
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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:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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HP:0001643 | Patent ductus arteriosus | |
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HP:0001655 | Patent foramen ovale | |
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HP:0001669 | Transposition of the great vessels | |
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HP:0001769 | Broad feet | "Increased width of the feet." [HPO:curators] |
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HP:0001770 | Toe syndactyly | "Webbing or fusion of the 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 toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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HP:0001838 | Vertical talus | |
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HP:0001848 | Calcaneovalgus deformities | |
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HP:0001873 | Thrombocytopenia | |
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HP:0001889 | Megaloblastic anemia | |
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HP:0002089 | Pulmonary hypoplasia | |
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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:0002179 | Opisthotonus | |
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HP:0002190 | Choroid plexus cyst | |
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HP:0002324 | Hydranencephaly | |
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HP:0002414 | Spina bifida | "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open." [HPO:curators] |
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HP:0002510 | Spastic tetraplegia | "Spastic paralysis affecting all four limbs." [HPO:curators] |
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HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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HP:0002521 | Hypsarrhythmia | "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes demonstrated by electroencephalography (EEG)." [HPO:curators] |
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HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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HP:0002748 | Rickets | |
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HP:0002749 | Osteomalacia | "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] |
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HP:0002804 | Arthrogryposis multiplex congenita | |
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HP:0002983 | Micromelia | |
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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:0003241 | Genital hypoplasia | |
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HP:0003394 | Muscle cramps | |
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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:0003826 | Stillborn or neonatal death | |
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HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, 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 in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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HP:0006266 | Small or abnormal placenta | |
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HP:0007227 | Brain macrogyria and polymicrogyria | |
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HP:0007266 | Dysmyelination of the brain | |
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HP:0007430 | Generalized edema | "Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:curators] |
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HP:0007525 | Yellow subcutaneous tissue covered by thin, scaly skin | |
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HP:0008064 | Ichthyosiform abnormality of the skin | |
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HP:0008734 | Decreased testicular size | |
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HP:0009466 | Radial deviation of fingers | |
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HP:0009473 | Joint contractures involving the joints of the hand | |
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HP:0009826 | Hypoplasia involving bones of the extremities | |
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HP:0011224 | Ablepharon | "Absent `eyelids` (FMA:75178)." [pmid:19125427] |
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HP:0011451 | Congenital microcephaly | "Microcephaly (HP:0000252) that is present already at the time of birth." [HPO:probinson] |
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HP:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
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HP:0012471 | Thick vermilion border | "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson] |
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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:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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HP:0100679 | Lack of skin elasticity | |
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