| 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:0000022 | Abnormality of male internal genitalia | |
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| HP:0000026 | Hypogonadism, male | "Lack of function of the males gonads (i.e., testes)." [HPO:curators] |
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| HP:0000027 | Azoospermia | |
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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:0000030 | Gonadoblastoma, male | |
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| HP:0000037 | Male pseudohermaphroditism | "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [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:0000045 | Abnormality of the scrotum | |
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| HP:0000046 | Scrotal hypoplasia | |
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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:0000048 | Bifid scrotum | "Separation of the two halves of the scrotum, whereby commonly the 2 halves of the scrotum meet above the penis." [HPO:curators] |
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| HP:0000054 | Micropenis | |
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| HP:0000058 | Abnormality of the labia | |
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| HP:0000062 | Ambiguous genitalia | |
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| HP:0000100 | Nephrotic syndrome | |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000130 | Abnormality of the uterus | "An abnormality of the uterus (womb)." [HPO:curators] |
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| HP:0000133 | Gonadal dysgenesis | |
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| HP:0000144 | Decreased fertility | |
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| HP:0000147 | polycystic ovaries | |
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| HP:0000149 | Gonadoblastoma, female | |
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| HP:0000150 | Gonadoblastoma | |
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| HP:0000162 | Glossoptosis | |
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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:0000238 | Hydrocephalus | |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000260 | Wide anterior fontanel | "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] |
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| HP:0000274 | Small face | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [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:0000457 | Flat nose | |
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| HP:0000470 | Short neck | |
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| HP:0000520 | Proptosis | |
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| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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| HP:0000600 | Abnormality of the pharynx | |
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| HP:0000771 | Gynecomastia | |
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| HP:0000774 | Narrow chest | |
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| HP:0000786 | Primary amenorrhea | |
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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:0000823 | Delayed puberty | |
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| HP:0000846 | Adrenal insufficiency | |
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| HP:0000868 | Decreased fertility in females | |
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| HP:0000878 | 11 pairs of ribs | |
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| HP:0000882 | Hypoplastic scapulae | |
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| HP:0000883 | Thin ribs | |
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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: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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001601 | Laryngomalacia | |
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| HP:0001627 | Cardiac abnormality | "An abnormality of the `heart` (FMA:7088)." [HPO:probinson] |
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| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002215 | Sparse axillary hair | |
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| HP:0002225 | Sparse pubic hair | |
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| HP:0002643 | Neonatal respiratory distress | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002667 | Nephroblastoma (Wilms tumor) | "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators] |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002781 | Upper airway obstruction | |
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| HP:0002786 | Tracheobronchomalacia | |
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| HP:0002808 | Kyphosis | |
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| HP:0002827 | Dislocated hips | |
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| HP:0002866 | Hypoplastic iliac wings | |
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| HP:0002980 | Femoral bowing | "Bowing (abnormal curvature) of the femur." [HPO:curators] |
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| HP:0002982 | Tibial bowing | "A developmental defect with posteromedial tibial angulation." [HPO:curators] |
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| HP:0003038 | Fibular hypoplasia | "Underdevelopment of the fibula." [HPO:curators] |
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| HP:0003251 | Male infertility | |
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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:0004408 | Abnormality of the sense of smell | |
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| HP:0005035 | short phalanges both hands and feet | |
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| HP:0005257 | Thoracic hypoplasia | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0006390 | Anterior bowing of tibia | |
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| HP:0006584 | Small abnormally formed scapulae | |
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| HP:0006628 | Absent sternal ossification | |
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| HP:0007036 | Hypoplasia of olfactory tract | |
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| HP:0008187 | Absence of secondary sex characteristics | |
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| HP:0008193 | Primary gonadal insufficiency | |
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| HP:0008214 | Decreased serum estradiol | |
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| HP:0008230 | Decreased testosterone in males | |
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| HP:0008232 | Elevated follicle stimulating hormone | |
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| HP:0008434 | Hypoplastic cervical vertebrae | |
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| HP:0008477 | Hypoplastic, poorly ossified cervical vertebrae | |
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| HP:0008665 | Hypertrophic clitoris | |
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| HP:0008715 | Testicular dysgenesis | |
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| HP:0008726 | Hypoplastic vagina | "Underdevelopment of the vagina." [HPO:curators] |
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| HP:0008730 | Female external genitalia in males | "The presence of female external genitalia in a person with a male karyotype." [HPO:curators] |
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| HP:0008734 | Decreased testicular size | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0008821 | Hypoplastic inferior ilia | |
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| HP:0008873 | Short stature, disproportionate short-limbed | "A type of short stature characterized by a short limbs but an average-sized trunk." [HPO:curators] |
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| HP:0008921 | Neonatal short-limbed dwarfism | |
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| HP:0010459 | True hermaphroditism | "The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism." [HPO:curators] |
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| HP:0010464 | Streak ovary | "A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequenty mesonephric or hilar cells." [HPO:curators] |
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| HP:0010781 | Skin dimples | "Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation." [HPO:probinson] |
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| HP:0011910 | Shortening of all phalanges of fingers | "Abnormal reduction in length affecting all phalanges." [HPO:probinson] |
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| HP:0011969 | Elevated luteinizing hormone | "An elevated concentration of luteinizing hormone in the blood." [HPO:probinson] |
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| HP:0012244 | Abnormal sex determination | "Anomaly of primary or secondary sexual development or characteristics." [HPO:probinson, MP:0002210] |
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| HP:0012245 | Sex reversal | "Development of the reproductive system is inconsistent with the chromosomal sex." [HPO:probinson, MP:0005652] |
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| HP:0012368 | Flat face | "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] |
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| HP: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:0012856 | Abnormal scrotal rugation | "Anomaly of the folded ridges (wrinkles) of skin of the scrotum." [HPO:probinson] |
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| HP:0012870 | Vanishing testis | "A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction." [HPO:probinson, pmid:22985611] |
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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:0100621 | Dysgerminoma | "The presence of a `dysgerminoma` (MPATH:312), i.e., an undifferentiated germ cell tumor of the `ovary` (FMA:7209)." [HPO:sdoelken] |
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| HP:0100779 | Urogenital sinus anomaly | "A rare birth defect in women where the urethra and vagina both open into a common channel." [HPO:curators] |
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