| HP:0000003 | Multicystic kidney | "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [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: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: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:0000054 | Micropenis | |
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| HP:0000062 | Ambiguous genitalia | |
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| HP:0000068 | Urethral atresia | |
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| HP:0000089 | Renal hypoplasia | |
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| HP:0000148 | Vaginal atresia | |
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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:0000183 | Difficulty in tongue movements | |
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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: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:0000238 | Hydrocephalus | |
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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:0000316 | Hypertelorism | |
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| HP:0000368 | Low-set, posteriorly rotated ears | |
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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:0000378 | Cup-shaped ears | "Small auricles that grow forward over the meatus (ear canal)." [HPO:curators] |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000413 | External auditory canal atresia | "Absence or failure to form of the external auditory canal." [HPO:curators] |
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| HP:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
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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:0000445 | Broad 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:0000528 | Anophthalmia | "Absence of a true eyeball." [HPO:curators] |
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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:0000618 | Blindness | |
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| HP:0000636 | Upper eyelid coloboma | "A `coloboma` (HP:0000589) of the `upper eyelid` (FMA:54439)." [HPO:probinson] |
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| HP:0000678 | Dental overcrowding | |
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| HP:0000689 | Dental malocclusion | "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] |
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| HP:0000777 | Abnormality of the thymus | "Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation." [HPO:curators] |
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| HP:0000813 | Bicornuate uterus | |
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| HP:0001126 | Cryptophthalmos | "Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001362 | Skull defect | "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year." [HPO:curators] |
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| HP:0001522 | Death in infancy | |
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| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
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| HP:0001539 | Omphalocele | |
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| HP:0001551 | Abnormality of the umbilicus | "Abnormality of the umbilicus (also known as the belly button or the navel)." [HPO:curators] |
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| HP:0001602 | Laryngeal stenosis | |
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| HP:0001607 | Subglottic stenosis | |
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| HP:0001627 | Cardiac abnormality | "An abnormality of the `heart` (FMA:7088)." [HPO:probinson] |
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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:0002006 | Facial cleft | |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002025 | Anal stenosis | "Abnormal narrowing of the anal opening." [HPO:curators] |
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| HP:0002084 | Encephalocele | |
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| HP:0002089 | Pulmonary hypoplasia | |
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| HP:0002101 | Abnormal lung lobation | "Defects in the formation of pulmonary lobules." [HPO:curators] |
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| HP:0002223 | Absent eyebrows | |
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| HP:0002244 | Abnormality of the small intestine | |
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| HP:0002475 | Meningomyelocele | |
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| HP:0002536 | Abnormal cortical gyration | "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [HPO:curators] |
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| HP:0002777 | Tracheal stenosis | |
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| HP:0003183 | Wide pubic symphysis | "Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones." [HPO:curators] |
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| HP:0003191 | Notched nasal alae | |
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| HP:0003422 | Vertebral segmentation defects | |
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| HP:0004112 | Midline nasal groove | "An abnormal groove on the midline of the nose that may extend to the nasal tip." [HPO:curators] |
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| HP:0004378 | Abnormality of the anus | "Abnormality of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0004397 | Ectopic anus | "Abnormal displacement or malposition of the anus." [HPO:curators] |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005325 | Unusual hairline with hair growth on temples extending to lateral eyebrow | |
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| HP:0005352 | Severe t-cell immunodeficiency | |
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| HP:0005950 | Partial laryngeal atresia | |
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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:0006610 | Wide intermamillary distance | |
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| HP:0006714 | Aplasia/Hypoplasia of the sternum | |
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| HP:0007633 | Bilateral microphthalmos | "A developmental anomaly characterized by abnormal smallness of both eyes." [HPO:curators] |
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| HP:0007925 | Lacrimal duct aplasia or stenosis | |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0007993 | Absent or malformed lacrimal ducts | |
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| HP:0008559 | Hypoplastic superior helix | |
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| HP:0008572 | External ear malformation | |
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| HP:0008609 | Middle ear malformations | |
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| HP:0008665 | Hypertrophic clitoris | |
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| HP:0008678 | Renal hypoplasia/aplasia | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0008750 | Laryngeal atresia | |
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| HP:0009601 | Aplasia/Hypoplasia of the thumb | "Hypoplastic/small or absent thumb." [HPO:curators] |
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| HP:0009767 | Aplasia/Hypoplasia of the phalanges of the hand | "Small or missing phalangeal bones of the fingers of the hand." [HPO:curators] |
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| HP:0010297 | Bifid tongue | "Tongue with a median apical indentation or fork." [pmid:19125428] |
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| HP:0010458 | Female pseudohermaphroditism | "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized." [HPO:curators] |
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| HP:0010554 | Cutaneous syndactyly of the fingers | "Webbing or fusion of the fingers involving soft parts only." [HPO:curators] |
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| HP:0010720 | Abnormal hair growth pattern | "An abnormality of the distribution of hair growth." [HPO:probinson] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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