| 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: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: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:0000023 | Inguinal hernia | |
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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:0000054 | Micropenis | |
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| HP:0000059 | Hypoplastic labia majora | |
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| HP:0000060 | Hypoplastic clitoris | |
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| HP:0000075 | Renal duplication | |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
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| HP:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
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| HP:0000174 | Abnormality of palate | "Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth)." [HPO:probinson] |
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| HP:0000202 | Cleft lip/palate | |
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| HP:0000207 | Triangular mouth | |
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| HP:0000212 | Gingival hyperplasia | |
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| HP:0000219 | Thin upper lip | |
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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:0000270 | Delayed closure of fontanelles | "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:curators] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000278 | Retrognathia | |
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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:0000322 | Short philtrum | |
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| HP:0000343 | Long philtrum | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
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| HP:0000365 | Hearing loss | |
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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:0000389 | Chronic otitis media | |
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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:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000470 | Short neck | |
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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:0000494 | Downward slanting palpebral fissures | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000520 | Proptosis | |
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| HP:0000527 | Long eyelashes | "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [pmid:19125427] |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000592 | Blue sclerae | |
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| HP:0000637 | Wide palpebral fissures | |
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| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000678 | Dental overcrowding | |
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| HP:0000696 | Delayed eruption of secondary teeth | |
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| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
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| HP:0000768 | Pectus carinatum | "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators] |
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| HP:0000902 | Rib fusion | |
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| HP:0000921 | Missing ribs | |
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| HP:0000960 | Sacral dimple | "A subtype of `skin dimples` (HP:0010781) presenting as an indentation in the skin of the intergluteal cleft ." [HPO:probinson] |
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| HP:0001052 | Nevus flammeus | "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken] |
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| HP:0001156 | Brachydactyly | |
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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:0001171 | Ectrodactyly (hands) | |
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| HP:0001249 | Mental retardation | |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [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:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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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:0001641 | Abnormality of the pulmonary valve | "An abnormality of the `pulmonary valve` (FMA:7246)." [HPO:probinson] |
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| HP:0001679 | Abnormalities of the aorta | |
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| HP:0001702 | Abnormality of the tricuspid valve | "An abnormality of the `tricuspid valve` (FMA:7234)." [HPO:probinson] |
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| HP:0001705 | Right ventricular outlet obstruction | |
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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:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001798 | Anonychia | "Total absence of nails." [HPO:curators] |
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| HP:0001804 | Hypoplastic fingernails | "Underdeveloped fingernails." [HPO:curators] |
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| HP:0001817 | Absent fingernails | |
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| HP:0001837 | Broad toes | |
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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:0001853 | Bifid terminal phalanges (feet) | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002263 | Exaggerated cupid s bow upper lip | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002714 | Downturned corners of mouth | "A morphological `abnormality of the mouth` (HP:0000153) in which the `angle of the mouth` (FMA:77269) is downturned." [HPO:probinson] |
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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:0002808 | Kyphosis | |
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| HP:0002937 | Hemivertebrae | |
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| HP:0002944 | Thoracolumbar scoliosis | |
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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:0003026 | Short long bones | |
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| HP:0003027 | Mesomelia | "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments." [HPO:sdoelken] |
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| HP:0003042 | Elbow dislocation | "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators] |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003272 | Abnormality of the hip | "An abnormality of the hip joint or the surrounding anatomic region." [HPO:curators] |
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| HP:0003422 | Vertebral segmentation defects | |
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| HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators] |
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| HP:0004220 | Hypoplastic/small middle phalanx of the 5th finger | "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger." [HPO:curators] |
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| HP:0004279 | Hypoplastic hand | |
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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:0004397 | Ectopic anus | "Abnormal displacement or malposition of the anus." [HPO:curators] |
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| HP:0004590 | Hypoplastic sacrum | |
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| HP:0005048 | fusion of carpal bones, especially capitate and hamate | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005819 | Abnormally short and broad middle phalanges | |
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| HP:0005831 | Type B brachydactyly | |
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| HP:0005914 | Aplasia/Hypoplasia involving the metacarpal bones | "Aplasia or Hypoplasia affecting the metacarpal bones." [HPO:curators] |
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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:0007598 | Bilateral single palmar creases | |
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| HP:0008083 | 2nd-5th toe middle phalangeal hypoplasia | |
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| HP:0008467 | Thoracic hemivertebrae | |
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| HP:0008736 | Hypoplasia of penis | |
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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:0009466 | Radial deviation of fingers | |
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| HP:0009473 | Joint contractures involving the joints of the hand | |
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| HP:0009773 | Symphalangism affecting the phalanges of the hand | "Fusion of two or more phalangeal bones of the hand." [HPO:curators] |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0009883 | Partial/complete duplication of the distal phalanges of the hand | "This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:curators] |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010059 | Broad phalanges of the hallux | |
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| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | |
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| HP:0010292 | Absent uvula | "Absence of the uvula." [HPO:curators] |
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| HP:0010296 | Ankyloglossia | "Short or anteriorly attached lingual frenulum associated with limited mobility of the tongue." [pmid:19125428] |
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| HP:0010297 | Bifid tongue | "Tongue with a median apical indentation or fork." [pmid:19125428] |
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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:0010804 | Tented upper lip vermilion | "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." [pmid:19125428] |
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| HP:0010807 | Open bite | "Visible space between the dental arches in occlusion." [pmid:19125428] |
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| HP:0011069 | Increased number of teeth | "The presence of a `supernumerary` (PATO:0000470), i.e., extra, `tooth` (FMA:12516) or teeth." [HPO:ibailleulforestier] |
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| HP:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
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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:0012368 | Flat face | "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] |
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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:0012815 | Hypoplastic female external genitalia | "Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris)." [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:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100798 | Fingernail dysplasia | "An abnormality of the development of the fingernails." [HPO:probinson] |
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| HP:0200055 | Small hands | |
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