| HP:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [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: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: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:0000049 | Shawl scrotum | "A condition in which the upper scrotal skin rises over the base 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: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:0000089 | Renal hypoplasia | |
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| HP:0000104 | Renal agenesis | |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
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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:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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| HP:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
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| HP:0000188 | Short upper lip | |
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| HP:0000194 | Open mouth | |
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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:0000219 | Thin upper lip | |
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| HP:0000232 | Everted lower lip | |
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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:0000268 | Dolichocephaly | |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000280 | Coarse facial features | |
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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:0000341 | Narrow forehead | "An abnormally reduced side-to-side width of the forehead." [HPO:curators] |
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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: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: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:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000451 | Triangular nasal tip | |
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| HP:0000457 | Flat nose | |
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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:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000545 | Myopia | |
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| HP:0000577 | Exotropia | |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000618 | Blindness | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000717 | Autism | |
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| HP:0000749 | Paroxysmal bursts of laughter | |
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| HP:0000752 | Hyperactivity | |
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| HP:0000978 | Ecchymoses | |
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| HP:0001005 | Dermatological manifestations of systemic disorders | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001182 | Tapered fingers | |
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| HP:0001238 | Slender fingers | "Digits are disproportionaly narrow (reduced girth)." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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| HP:0001258 | Spastic paraplegia | |
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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:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001371 | Contractures | |
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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:0001399 | Hepatic failure | |
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| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| HP:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
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| HP:0001510 | Growth retardation | |
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| HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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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:0001566 | Widely-spaced upper incisors | |
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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:0001708 | Right ventricular failure | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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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:0001824 | Weight loss | |
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| HP:0001871 | Hematological abnormality | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001875 | Neutropenia | |
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| HP:0001884 | Talipes calcaneovalgus | "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg." [HPO:curators] |
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| HP:0001891 | Iron deficiency anemia | |
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| HP:0001903 | Anemia | |
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| HP:0001935 | Microcytic anemia | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0001962 | Palpitations | |
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| HP:0002013 | Vomiting | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002019 | Constipation | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002039 | Anorexia | |
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| HP:0002044 | Zollinger-Ellison syndrome | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002094 | Dyspnea | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002248 | Hematemesis | |
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| HP:0002249 | Melena | |
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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:0002254 | Intermittent diarrhea | |
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| HP:0002307 | Drooling | |
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| HP:0002357 | Dysphasia | |
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| HP:0002383 | Encephalitis | |
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| HP:0002488 | Acute leukemia | |
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| HP:0002574 | Episodic abdominal pain | |
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| HP:0002580 | Volvulus | |
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| HP:0002615 | Hypotension | |
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| HP:0002668 | Paragangliomas | "A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation." [HPO:curators] |
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| HP:0002673 | Coxa valga | "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators] |
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| HP:0002688 | Absent frontal sinuses | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002730 | Chronic noninfectious lymphadenopathy | |
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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:0002751 | Kyphoscoliosis | |
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| HP:0002857 | Genu valgum | |
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| HP:0002863 | Myelodysplasia | |
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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:0002937 | Hemivertebrae | |
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| HP:0003144 | Increased serum serotonin in 25% | |
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| HP:0003154 | Elevated plasma ACTH | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003812 | Phenotypic variability | |
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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: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:0004385 | Protracted diarrhea | |
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| HP:0004396 | Poor appetite | |
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| HP:0004840 | hypochromic, microcytic anemia | |
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| HP:0005180 | Tricuspid insufficiency | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005326 | Hypoplastic philtrum | |
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| HP:0006887 | Mental retardation, progressive | "Mental retardation is defined as a decreased intelligence quotient of varying degree. The term progressive mental retardation should be used if intelligence decreases/deteriorates over time." [HPO:curators] |
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| HP:0006895 | Lower limb hypertonia | |
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| HP:0007380 | Facial telangiectatic vessels | "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face." [HPO:curators] |
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| HP:0008551 | Underdeveloped ears | |
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| HP:0008734 | Decreased testicular size | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0008947 | Infantile muscular hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy." [HPO:curators] |
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| HP:0009466 | Radial deviation of fingers | |
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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:0010806 | U-Shaped upper lip vermilion | "Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures." [pmid:19125428] |
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| HP:0010808 | Protruding tongue | "Tongue extending beyond the alveolar ridges or teeth at rest." [pmid:19125428] |
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| HP:0010864 | Mental retardation, severe | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
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| HP:0011328 | Abnormality of fontanelles | "An abnormality of the `fontanelle` (FMA:75438)." [HPO:probinson] |
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| HP:0011682 | Perimembranous ventricular septal defect | "A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs." [DDD:dbrown, pmid:10798413] |
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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:0011902 | Abnormal hemoglobin | "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes." [HPO:probinson] |
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| HP:0011903 | Hemoglobin H | "Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia." [HPO:probinson, pmid:21345100] |
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| HP:0011907 | Reduced alpha/beta synthesis ratio | "A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia." [HPO:probinson] |
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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:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0012701 | Bowel urgency | "A sudden, irresistible need to have a bowel movement." [UToronto:htrang] |
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| HP:0012736 | Profound global developmental delay | "A profound delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
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| HP:0025428 | Bronchospasm | "A spasm (sudden, involuntary constriction) of the bronchioles." [] |
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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:0030145 | Lack of bowel sounds | "Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope." [HPO:probinson] |
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| HP:0030149 | Cardiogenic shock | "Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume." [pmid:24188221] |
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| HP:0030446 | Atypical pulmonary carcinoid tumor | |
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| HP:0031566 | Abnormal pulmonary valve cusp morphology | "Any structural anomaly of the pulmonary valve leaflets." [Fyler:1652] |
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| HP:0100022 | Abnormality of movement | "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements." [HPO:probinson] |
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| HP:0100716 | Autoagression | "Aggression towards oneself." [HPO:sdoelken] |
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