| 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:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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| HP:0000212 | Gingival hyperplasia | |
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| HP:0000214 | Lip telangiectases | |
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| HP:0000217 | Xerostomia | "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators] |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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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:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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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: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:0000403 | Recurrent otitis media | |
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| HP:0000476 | Cystic hygroma of the neck | "A cystic lymphatic lesion of the neck." [HPO:curators] |
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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:0000692 | Misalignment of teeth | |
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| HP:0000773 | Short ribs | |
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| HP:0000774 | Narrow chest | |
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| HP:0000782 | Abnormality of the scapulae | "Any abnormality of the scapulae (shoulder blades)." [HPO:curators] |
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| HP:0000878 | 11 pairs of ribs | |
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| HP:0000890 | Long clavicles | |
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| HP:0000926 | Platyspondyly | |
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| HP:0000941 | Short diaphyses | |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0000964 | Eczema | "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] |
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| HP:0000988 | Skin rash | |
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| HP:0000989 | Pruritus | "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators] |
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| HP:0001004 | Lymphedema | |
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| HP:0001097 | Keratoconjunctivitis sicca | "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001162 | Postaxial polydactyly (hands) | "Supernumerary digits located at the ulnar side of the hand." [HPO:curators] |
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| HP:0001169 | Broad 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: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:0001367 | Abnormality of the joints | "An abnormality of the joints, i.e., of the articulations where two bones join." [HPO:curators] |
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| HP:0001369 | Arthritis | |
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| HP:0001394 | Cirrhosis | |
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| HP:0001433 | Hepatosplenomegaly | |
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| HP:0001508 | Failure to thrive | |
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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:0001541 | Ascites | |
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| HP:0001552 | Barrel-shaped chest | |
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| HP:0001561 | Polyhydramnios | |
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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:0001640 | Cardiomegaly | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001761 | Pes cavus | |
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| HP:0001790 | Nonimmune hydrops fetalis | |
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| HP:0001802 | Absent toenails | |
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| HP:0001804 | Hypoplastic fingernails | "Underdeveloped fingernails." [HPO:curators] |
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| HP:0001830 | Postaxial polydactyly (feet) | "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." [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:0001875 | Neutropenia | |
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| HP:0001881 | Abnormality of leukocytes | |
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| HP:0001902 | Giant platelets | |
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| HP:0001945 | Fever | |
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| HP:0001978 | Extramedullary hematopoiesis | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002069 | Generalized tonic-clonic seizures | "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) in which the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure." [HPO:curators] |
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| HP:0002089 | Pulmonary hypoplasia | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002101 | Abnormal lung lobation | "Defects in the formation of pulmonary lobules." [HPO:curators] |
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| HP:0002202 | Pleural effusion | "The presence of an excessive amount of fluid in the pleural cavity." [HPO:curators] |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002383 | Encephalitis | |
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| HP:0002395 | Lower limb hyperreflexia | |
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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:0002570 | Steatorrhea | |
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| HP:0002613 | Biliary cirrhosis | |
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| HP:0002694 | Sclerotic skull base | |
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| HP:0002787 | Tracheal calcifications | "Calcification (abnormal deposits of calcium) in the tracheal tissues." [HPO:curators] |
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| HP:0002808 | Kyphosis | |
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| HP:0002904 | Hyperbilirubinemia | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0002916 | Abnormality of the chromosomes | "A cytogenetically visible chromosomal abnormality." [HPO:curators] |
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| HP:0002983 | Micromelia | |
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| HP:0003015 | Metaphyseal flaring | "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] |
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| HP:0003021 | Metaphyseal cupping | "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:curators] |
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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:0003107 | Abnormality of cholesterol metabolism | |
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| HP:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003440 | Horizontal sacrum | |
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| HP:0003502 | Mild short stature | "A mild degree of short stature." [HPO:curators] |
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| HP:0003761 | Calcinosis | "Formation of calcium deposits in any soft tissue." [HPO:curators] |
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| HP:0003811 | Neonatal death | |
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| HP:0003826 | Stillborn or neonatal death | |
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| HP:0004295 | Abnormality of the gastric mucosa | |
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| HP:0004331 | Decreased skull ossification | "A reduction in the magnitude or amount of ossification of the skull." [HPO:curators] |
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| HP:0004510 | Islets of Langerhans hyperplasia | |
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| HP:0004598 | platyspondyly with multiple extra ossification centers | |
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| HP:0004599 | Absent or minimally ossified vertebral bodies | |
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| HP:0005019 | Diaphyseal thickening | |
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| HP:0005099 | severe hydrops fetalis | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005528 | Bone marrow hypoplasia | |
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| HP:0005716 | Lethal skeletal dysplasia | |
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| HP:0005855 | Multiple prenatal fractures | "The presence of bone fractures in the prenatal period that are diagnosed at birth or before." [HPO:curators] |
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| HP:0006487 | Bowing of the long bones | |
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| HP:0006559 | Liver calcifications | |
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| HP:0006619 | Anterior rib punctate calcifications | |
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| HP:0006637 | Sternal punctate calcifications | |
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| HP:0006895 | Lower limb hypertonia | |
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| HP:0007400 | Irregular hyperpigmentation | |
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| HP:0008364 | Abnormality of the calcaneus | |
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| HP:0008420 | Vertebral calcifications | |
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| HP:0008479 | Hypoplastic vertebral bodies | |
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| HP:0008516 | Abnormality of the vertebral spinous processes | |
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| HP:0008754 | Laryngeal calcifications | "Calcification (abnormal deposits of calcium) in the laryngeal tissues." [HPO:curators] |
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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:0008890 | Severe short-limb dwarfism | |
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| HP:0008905 | Rhizomelic short stature | |
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| HP:0009027 | Foot dorsiflexor weakness | |
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| HP:0009099 | Median cleft palate | "Cleft palate of the midline of the palate." [HPO:curators] |
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| HP:0009106 | Abnormal ossification involving the bones of the pelvis | |
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| HP:0009107 | Abnormal ossification involving the femoral head and neck | |
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| HP:0009487 | Ulnar deviation of the hand | "A deviation of the orientation of the hand in the direction of the ulna (i.e., towards the little finger)." [HPO:curators] |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0009824 | Hypoplasia involving bones of the upper limbs | |
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| HP:0010041 | Hypoplastic/short 3rd metacarpal | |
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| HP:0010044 | Hypoplastic/short 4th metacarpal | |
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| HP:0010047 | Hypoplastic/short 5th metacarpal | |
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| HP:0010442 | Polydactyly | |
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| HP:0010655 | Stippling of the epiphyses | "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses (FMA:24012)." [HPO:curators] |
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| HP:0010659 | Patchy increased and decreased bone mineral density | "Patchy (irregular) changes in bone mineral density which in this case include patches of bone showing an increased density side to side with pathches that are affected by reduction of mineral density. This can take on many forms depending on severity and distribution as can be seen on x-rays and sometimes is revered to as a moth-eaten appearance on x-rays." [HPO:curators] |
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| HP:0010675 | Abnormality of the mineralisation and ossification of bones of the feet | |
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| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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| HP:0011447 | Hyposegmentation of neutrophil nuclei | "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei." [DDD:probinson] |
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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:0011838 | Sclerodactyly | "Localized thickening and tightness of the skin of the fingers or toes." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0025520 | Calcinosis cutis | "Deposition of calcium in the skin." [] |
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| HP:0030880 | Raynaud phenomenon | |
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| HP:0100324 | Scleroderma | "A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies." [HPO:sdoelken] |
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| HP:0100569 | Abnormality of ossification/mineralisation of vertebrae | |
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| HP:0100579 | Mucosal telangiectasiae | "`Telangiectasia` (HP:0001009) of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs." [HPO:sdoelken] |
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| HP:0100585 | Teleangiectasia of the skin | |
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| HP:0100602 | Preecplampsia | "Pregnancy-induced hypertension in association with significant amounts of protein in the urine." [HPO:sdoelken] |
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| HP:0100725 | Lichenification | "Thickening and hardenining of the epidermis seen with exaggeration of normal skin lines." [HPO:probinson] |
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| HP:0100869 | Palmar telangiectasia | "The presence of telangiectases on the `skin of palm of hand` (FMA:38301)." [HPO:probinson] |
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| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
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