| 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:0000015 | Bladder diverticula | "The presence of one or more diverticula (sac or pouch) in the wall of the urinary bladder." [HPO:curators] |
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| HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
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| HP:0000085 | Horseshoe kidney | |
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| HP:0000089 | Renal hypoplasia | |
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| HP:0000104 | Renal agenesis | |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000143 | Rectovaginal fistula | "The presence of a fistula between the rectum and the vagina." [HPO:curators] |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000324 | Facial asymmetry | |
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| HP:0000365 | Hearing loss | |
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| HP:0000405 | Hearing loss, conductive | |
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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: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:0000480 | Retinal coloboma | |
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| HP:0000482 | Microcornea | "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson] |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000487 | Congenital strabismus | |
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| HP:0000505 | Impaired vision | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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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:0000542 | Impaired ocular adduction | |
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| HP:0000544 | External ophthalmoplegia | |
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| HP:0000567 | Chorioretinal coloboma | |
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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:0000588 | Optic nerve coloboma | |
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| HP:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
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| HP:0000619 | Impaired convergence | |
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| HP:0000634 | Impaired ocular abduction | |
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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:0000661 | Palpebral fissure narrowing on adduction | |
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| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001177 | Preaxial polydactyly (hands) | "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:curators] |
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| HP:0001199 | Triphalangeal thumb | "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. The thumb normally consists of the first metacarpal and a proximal and distal phalanx. All other digits have an additional middle phalanx. This term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:curators] |
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| HP:0001245 | Thenar hypoplasia | "Underdevelopment of the thenar eminence." [HPO:curators] |
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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:0001498 | Carpal bone hypoplasia | |
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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: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:0001636 | Tetralogy of Fallot | "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:curators] |
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| HP:0001739 | Abnormality of the nasopharynx | |
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| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [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:0001852 | Gap between first and second toes | "The presence of a larger than normal gap between the first and second toes related to medial displacement of the first toe." [HPO:curators] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001883 | Talipes | |
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| HP:0001974 | Leukocytosis | "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson] |
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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:0002251 | Congenital megacolon | "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators] |
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| HP:0002566 | Intestinal malrotation | "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [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:0002948 | Vertebral fusion | "A developmental defect leading to the union of two adjacent vertebrae." [HPO:curators] |
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| HP:0002949 | Fused cervical vertebrae | |
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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:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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| HP:0002996 | Limited elbow movement | |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003298 | Spina bifida occulta | "The closed form of spina bifida." [HPO:curators] |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0003812 | Phenotypic variability | |
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| HP:0003974 | Absent ossification/absence of radius | |
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| HP:0004059 | Radial club | |
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| HP:0004712 | Malrotation of the kidney | |
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| HP:0004736 | Ectopic kidney with fusion | |
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| HP:0005048 | fusion of carpal bones, especially capitate and hamate | |
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| HP:0005792 | Humeral hypoplasia | |
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| HP:0006064 | Limited interphalangeal movement | |
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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:0006248 | Limited wrist movement | "An abnormal limitation of the mobility of the wrist." [HPO:curators] |
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| HP:0006660 | Aplastic clavicles | |
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| HP:0007477 | Abnormal dermatoglyphics | "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles." [HPO:curators] |
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| HP:0007766 | Hypoplastic optic disks | |
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| HP:0008588 | Slit-like openings of the exterior auditory meatus | |
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| HP:0008678 | Renal hypoplasia/aplasia | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0008953 | Pectoralis major muscle hypoplasia | "Underdevelopment of the pectoralis major muscle." [HPO:curators] |
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| HP:0008998 | Pectoralis hypoplasia | |
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| HP:0009016 | Upper limb muscle hypoplasia | "Underdevelopment of muscles of the arm." [HPO:curators] |
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| HP:0009486 | Radial deviation of the hand | "An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb)." [HPO:curators] |
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| HP:0009650 | Hypoplastic/small distal phalanx of the thumb | "Hypoplastic/small distal/terminal phalanx of the thumb." [HPO:curators] |
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| HP:0009702 | Synostosis involving the carpal bones | |
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| HP:0009777 | Aplasia of the thumb | "Absent thumb." [HPO:curators] |
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| HP:0009778 | Hypoplastic/small thumb | |
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| HP:0009921 | Duane anomaly | "Duane anomaly is a congenital eye movement impairment with limitation of the ability to adduct or abduct the eye. When affected eyes are adducted (moved inwards towards the nose), the eyeball retracts and the palpebral fissure narrows." [HPO:curators] |
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| HP:0010034 | Hypoplastic/short 1st metacarpal | "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] |
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| HP:0010048 | Aplasia of metacarpal bones | |
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| HP:0010059 | Broad phalanges of the hallux | |
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| HP:0010109 | Hypoplastic/small hallux | |
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| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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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:0030241 | Hypoplasia of deltoid muscle | "Underdevelopment of the deltoid muscle." [Neuromics:vstraub] |
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| HP:0100258 | Preaxial polydactyly | "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe." [HPO:probinson] |
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