| 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:0000033 | Ambiguous genitalia, 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:0000041 | Chordee | "A condition in which the head of the penis curves downward." [HPO:curators] |
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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:0000051 | Perineal hypospadias | |
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| HP:0000054 | Micropenis | |
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| HP:0000059 | Hypoplastic labia majora | |
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| HP:0000061 | Ambiguous genitalia, female | |
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| HP:0000062 | Ambiguous genitalia | |
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| HP:0000063 | Fused labia minora | "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [HPO:curators] |
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| HP:0000066 | Labial hypoplasia | |
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| HP:0000085 | Horseshoe kidney | |
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| HP:0000098 | Increased body height | |
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| HP:0000140 | Menstrual abnormalities | |
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| HP:0000147 | polycystic ovaries | |
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| HP:0000148 | Vaginal atresia | |
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| HP:0000238 | Hydrocephalus | |
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| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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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:0000260 | Wide anterior fontanel | "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000343 | Long philtrum | |
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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:0000402 | Stenotic external auditory canal | "An abnormal narrowing of the external auditory canal." [HPO:curators] |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000447 | Pear-shaped nose | |
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| HP:0000452 | Choanal stenosis | "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:curators] |
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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:0000520 | Proptosis | |
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| HP:0000774 | Narrow chest | |
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| HP:0000818 | Endocrine abnormality | |
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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:0000840 | Adrenogenital syndrome | |
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| HP:0000868 | Decreased fertility in females | |
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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:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001061 | Acne | |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001194 | Abnormalities of placenta and umbilical cord | "An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta)." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001363 | Craniosynostosis | "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators] |
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| HP:0001371 | Contractures | |
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| HP:0001438 | Abnormality of the abdomen | "Abnormality of the abdomen ("belly"), that is, the part of the body between the pelvis and the thorax." [HPO:curators] |
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| HP:0001518 | Low birth weight | |
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| HP:0001562 | Oligohydramnios | |
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| HP:0001586 | Vesicovaginal fistula | |
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| HP:0001601 | Laryngomalacia | |
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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:0001838 | Vertical talus | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002308 | Arnold-Chiari malformation | "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators] |
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| HP:0002616 | Aortic root dilatation | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002676 | Cloverleaf skull | "A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus." [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:0002780 | Bronchomalacia | |
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| HP:0002781 | Upper airway obstruction | |
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| HP:0002937 | Hemivertebrae | |
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| HP:0002974 | Radioulnar synostosis | "An abnormal osseous union (fusion) between the radius and the ulna." [HPO:curators] |
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| HP:0002980 | Femoral bowing | "Bowing (abnormal curvature) of the femur." [HPO:curators] |
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| HP:0003031 | Ulnar bowing | "Bending of the diaphysis (shaft) of the ulna, usually in the convex posterior direction." [HPO:curators] |
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| HP:0003041 | Radiohumeral synostosis | "An abnormal osseous union (fusion) between the radius and the humerus." [HPO:curators] |
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| HP:0003154 | Elevated plasma ACTH | |
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| HP:0003275 | Narrow pelvis | |
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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:0004440 | Coronal craniosynostosis | |
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| HP:0004443 | Lambdoidal craniosynostosis | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated 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:0007440 | Generalized hyperpigmentation | |
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| HP:0008072 | Maternal virilization | |
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| HP:0008073 | Low maternal serum estriol | |
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| HP:0008163 | Plasma cortisol low | |
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| HP:0008187 | Absence of secondary sex characteristics | |
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| HP:0008214 | Decreased serum estradiol | |
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| HP:0008226 | Androgen insufficiency | |
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| HP:0008258 | Congenital adrenal hyperplasia | |
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| HP:0008368 | Synostosis involving tarsal bones | |
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| HP:0008665 | Hypertrophic clitoris | |
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| HP:0008675 | Enlarged polycystic ovaries | |
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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:0009473 | Joint contractures involving the joints of the hand | |
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| HP:0009702 | Synostosis involving the carpal bones | |
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| HP:0011742 | Ectopic adrenal gland | "Abnormal anatomical location of the adrenal gland." [DDD:spark] |
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| HP:0011749 | Adrenocorticotropic hormone excess | "Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex." [DDD:spark] |
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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:0012041 | Decreased fertility in males | |
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| HP:0012210 | Abnormal renal morphology | "Any structural anomaly of the `kidney` (FMA:7203)." [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: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:0012412 | Premature adrenarche | "Onset of adrenarche at an earlier age than usual." [HPO:probinson] |
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| HP:0012881 | Abnormality of the labia majora | "An anomaly of the outer labia." [HPO:probinson] |
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| HP:0030014 | Female sexual dysfunction | |
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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:0030088 | Increased testosterone | "An elevated circulating testosterone level in the blood." [] |
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| HP:0030258 | Hyperpigmented genitalia | "Localized or generalized increased genital pigmentation." [] |
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| HP:0040171 | Decreased serum testosterone level | |
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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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