Gene: PTPN11
Cytoband position: 12q24.13
OMIM: 176876
RVIS score: -0.43
RVIS percentage: 25.15
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Micropenis | HP:0000054 | HP:0000038 | Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. |
| Hypoplastic male external genitalia | HP:0000050 | HP:0008710,HP:0008721 | Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). |
| Hypospadias | HP:0000047 | None | Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. |
| Abnormal male external genitalia morphology | HP:0000032 | None | Any structural abnormality of male external genitalia. |
| Abnormal morphology of female internal genitalia | HP:0000008 | None | An abnormality of the female internal genitalia. |
| Autosomal dominant inheritance | HP:0000006 | HP:0001415,HP:0001447,HP:0001448,HP:0001451,HP:0001452,HP:0001455,HP:0001456,HP:0001463 | 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. |
| Mode of inheritance | HP:0000005 | HP:0001425,HP:0001453,HP:0001461,HP:0010985 | The pattern in which a particular genetic trait or disorder is passed from one generation to the next. |
| Abnormality of body height | HP:0000002 | None | Deviation from the norm of height with respect to that which is expected according to age and gender norms. |
| Abnormality of globe location | HP:0100886 | None | An abnormality in the placement of the ocular globe (eyeball). |
| Malignant neoplasm of the central nervous system | HP:0100836 | None | A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns. |
| Hypermelanotic macule | HP:0001034 | HP:0007442,HP:0007491,HP:0007492,HP:0100815,HP:0200031,HP:0200033 | A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. |
| Exostoses | HP:0100777 | None | An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. |
| Synovitis | HP:0100769 | None | None |
| Abnormal long bone morphology | HP:0011314 | HP:0100713,HP:0100714,HP:0100715 | An abnormality of size or shape of the long bones. |
| Abnormal cranial nerve physiology | HP:0031910 | None | A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. |
| Abnormality of the common coagulation pathway | HP:0010990 | None | An abnormality of blood coagulation, common pathway. |
| Abnormal morphology of the abdominal musculature | HP:0010991 | None | An abnormality of the abdominal musculature. |
| Abnormality of body weight | HP:0004323 | HP:0010718 | An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. |
| Arrhythmia | HP:0011675 | HP:0001656,HP:0001661,HP:0001665,HP:0001666,HP:0001675,HP:0001687,HP:0001721,HP:0004351,HP:0005158 | 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. |
| Patent ductus arteriosus | HP:0001643 | None | In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. |
| Abnormality of skin pigmentation | HP:0001000 | HP:0007582,HP:0200045 | An abnormality of the pigmentation of the skin. |
| Abnormality of the integument | HP:0001574 | None | An abnormality of the integument, which consists of the skin and the superficial fascia. |
| Typified by somatic mosaicism | HP:0001442 | HP:0001428,HP:0001444 | Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. |
| Abnormality of bone mineral density | HP:0004348 | None | This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. |
| Joint hypermobility | HP:0001382 | HP:0001378,HP:0001380,HP:0001383,HP:0001388,HP:0002771,HP:0005034,HP:0005692 | The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. |
| Specific learning disability | HP:0001328 | HP:0007234 | Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. |
| Abnormal musculoskeletal physiology | HP:0011843 | None | An abnormality of the function of the skeletal system. |
| Abnormal bone ossification | HP:0011849 | None | Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| Abnormal calvaria morphology | HP:0002683 | HP:0002648 | Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. |
| Abnormal digit morphology | HP:0011297 | None | A morphological abnormality of a digit, i.e., of a finger or toe. |
| Woolly hair | HP:0002224 | None | The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. |
| High forehead | HP:0000348 | HP:0000342 | An abnormally increased height of the forehead. |
| Broad forehead | HP:0000337 | HP:0000352,HP:0000354 | Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. |
| Abnormal penis morphology | HP:0000036 | None | Abnormality of the male external sex organ. |
| Abnormal testis morphology | HP:0000035 | None | An anomaly of the testicle (the male gonad). |
| Abnormal ear physiology | HP:0031704 | None | Any functional anomaly of the ear. |
| Abnormal ear morphology | HP:0031703 | None | Any structural anomaly of the ear. |
| Abnormality of the liver | HP:0001392 | None | An abnormality of the liver. |
| Abnormal breast morphology | HP:0031093 | None | Any anomaly of the structure of the breast. |
| Abnormal ovarian morphology | HP:0031065 | None | None |
| Abnormal systemic arterial morphology | HP:0011004 | HP:0002620,HP:0005114 | An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. |
| Abnormal iris pigmentation | HP:0008034 | None | Abnormal pigmentation of the iris. |
| Abnormality of the abdominal organs | HP:0002012 | None | An abnormality of the viscera of the abdomen. |
| Intellectual disability, mild | HP:0001256 | HP:0006908,HP:0007119 | Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. |
| Global developmental delay | HP:0001263 | HP:0000754,HP:0001255,HP:0001277,HP:0001292,HP:0002433,HP:0002473,HP:0002532,HP:0006793,HP:0006867,HP:0006885,HP:0006935,HP:0007005,HP:0007094,HP:0007106,HP:0007174,HP:0007224,HP:0007228,HP:0007342,HP:0025356 | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| Abnormal pulmonary artery morphology | HP:0030966 | None | An abnormality of the structure of the pulmonary artery. |
| Abnormal aortic morphology | HP:0001679 | HP:0030963 | An abnormality of the aorta. |
| Abnormal morphology of the great vessels | HP:0030962 | None | A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. |
| Abnormality of cardiovascular system electrophysiology | HP:0030956 | None | An anomaly of the electrical conduction physiology of the heart. |
| Abnormality of the nervous system | HP:0000707 | HP:0001333,HP:0006987 | An abnormality of the nervous system. |
| Edema | HP:0000969 | HP:0000990 | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| Melanocytic nevus | HP:0000995 | None | A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. |
| Bruising susceptibility | HP:0000978 | HP:0000959,HP:0007433,HP:0007472 | An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. |
| Hyperextensible skin | HP:0000974 | HP:0007389,HP:0007493,HP:0007578 | A condition in which the skin can be stretched beyond normal, and then returns to its initial position. |
| Radioulnar synostosis | HP:0002974 | HP:0003962 | An abnormal osseous union (fusion) between the radius and the ulna. |
| Dry skin | HP:0000958 | None | Skin characterized by the lack of natural or normal moisture. |
| Cafe-au-lait spot | HP:0000957 | HP:0005601,HP:0007454 | Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. |
| Hyperpigmentation of the skin | HP:0000953 | HP:0007527 | A darkening of the skin related to an increase in melanin production and deposition. |
| Shield chest | HP:0000914 | None | A broad chest. |
| Limited elbow movement | HP:0002996 | HP:0006395 | None |
| Abnormality of the pulmonary vasculature | HP:0004930 | None | None |
| Sprengel anomaly | HP:0000912 | HP:0006621 | A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). |
| Abnormality of the skin | HP:0000951 | HP:0001478,HP:0001479,HP:0005591,HP:0006736,HP:0007415,HP:0007580 | An abnormality of the skin. |
| Abnormal metaphysis morphology | HP:0000944 | HP:0006506 | An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. |
| Abnormal diaphysis morphology | HP:0000940 | HP:0006504 | An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. |
| Osteopenia | HP:0000938 | HP:0002768,HP:0002799,HP:0002800 | Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. |
| Abnormal epiphysis morphology | HP:0005930 | HP:0000936 | An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. |
| Abnormal skull morphology | HP:0000929 | None | An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. |
| Delayed skeletal maturation | HP:0002750 | HP:0000928,HP:0002806 | 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. |
| Abnormality of skeletal maturation | HP:0000927 | None | The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. |
| Abnormality of the vertebral column | HP:0000925 | None | Any abnormality of the vertebral column. |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Missing ribs | HP:0000921 | HP:0000881,HP:0006627 | A developmental anomaly with absence of one or more ribs. |
| Superior pectus carinatum | HP:0000917 | None | Pectus carinatum affecting primarily the superior part of the sternum. |
| Pectus excavatum of inferior sternum | HP:0000915 | None | Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum. |
| Severe hearing impairment | HP:0012714 | None | A severe form of hearing impairment. |
| Cranial nerve paralysis | HP:0006824 | HP:0001353,HP:0002377 | None |
| Abnormality of eye movement | HP:0000496 | HP:0006860 | An abnormality in voluntary or involuntary eye movements or their control. |
| Abnormality of the upper limb | HP:0002817 | HP:0003838 | An abnormality of the arm. |
| Puberty and gonadal disorders | HP:0008373 | HP:0000827 | None |
| Delayed puberty | HP:0000823 | HP:0008859,HP:0010466,HP:0010467 | Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. |
| Abnormality of the elbow | HP:0009811 | HP:0002966 | An anomaly of the joint that connects the upper and the lower arm. |
| Abnormality of upper limb joint | HP:0009810 | None | None |
| Abnormality of the endocrine system | HP:0000818 | None | An abnormality of the endocrine system. |
| Abnormal internal genitalia | HP:0000812 | None | An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). |
| Abnormal external genitalia | HP:0000811 | None | None |
| Abnormal muscle tone | HP:0003808 | None | None |
| Melanoma | HP:0002861 | HP:0002887,HP:0006777,HP:0007474 | The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). |
| Aplasia/Hypoplasia of the ribs | HP:0006712 | HP:0006636 | None |
| Aplasia/Hypoplasia involving bones of the thorax | HP:0006711 | None | None |
| Myelodysplasia | HP:0002863 | HP:0004832,HP:0006730 | Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. |
| Leukemia | HP:0001909 | HP:0005519,HP:0006726 | A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. |
| Neoplasm | HP:0002664 | HP:0003008,HP:0006741 | An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). |
| Neuroblastoma | HP:0003006 | HP:0006738 | Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. |
| Abnormal jaw morphology | HP:0030791 | None | A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. |
| Cryptorchidism | HP:0000028 | HP:0000797 | Testis in inguinal canal. That is, 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 scrotum. |
| Abnormality of the urethra | HP:0000795 | None | An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. |
| Abnormal renal morphology | HP:0012210 | HP:0000792,HP:0004726,HP:0004735,HP:0008712 | Any structural anomaly of the kidney. |
| External genital hypoplasia | HP:0003241 | HP:0000788,HP:0003245 | Underdevelopment of part or all of the external reproductive organs. |
| Infertility | HP:0000789 | None | None |
| Neurodevelopmental abnormality | HP:0012759 | None | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| Abnormal uvea morphology | HP:0000553 | None | An abnormality of the uvea, the vascular layer of the eyeball. |
| Neurodevelopmental delay | HP:0012758 | None | Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. |
| Renal agenesis | HP:0000104 | HP:0000785,HP:0004745,HP:0008680 | Agenesis, that is, failure of the kidney to develop during embryogenesis and development. |
| Scapular winging | HP:0003691 | HP:0000783 | Abnormal protrusion of the scapula away from the surface of the back. |
| Abnormal scapula morphology | HP:0000782 | None | Any abnormality of the scapula, also known as the shoulder blade. |
| Abnormal sternum morphology | HP:0000766 | HP:0000780,HP:0006586,HP:0006594,HP:0006605,HP:0006630,HP:0006708 | An anomaly of the sternum, also known as the breastbone. |
| Wide intermamillary distance | HP:0006610 | HP:0000779,HP:0001554 | A larger than usual distance between the left and right nipple. |
| Abnormality of hair texture | HP:0010719 | HP:0002295,HP:0003776 | An abnormality of the texture of the hair. |
| Abnormal rib morphology | HP:0000772 | HP:0006618 | An anomaly of the rib. |
| Pectus carinatum | HP:0000768 | HP:0006639 | A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. |
| Abnormality of the breast | HP:0000769 | None | An abnormality of the breast. |
| Pectus excavatum | HP:0000767 | HP:0006613,HP:0006617 | A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance. |
| Macule | HP:0012733 | None | A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. |
| Nevus | HP:0003764 | None | A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. |
| Abnormal thorax morphology | HP:0000765 | HP:0100655 | Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). |
| Heart block | HP:0012722 | None | Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. |
| Abnormal atrioventricular valve morphology | HP:0006705 | HP:0006675 | An abnormality of an atrioventricular valve. |
| Abnormality of the musculature | HP:0003011 | HP:0003197,HP:0003708,HP:0040290 | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| Complete atrioventricular canal defect | HP:0001674 | HP:0001689,HP:0006697 | A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. |
| Atrioventricular canal defect | HP:0006695 | HP:0005139,HP:0005298,HP:0010439 | A defect of the atrioventricular septum of the heart. |
| Abnormal cardiovascular system morphology | HP:0030680 | HP:0001632,HP:0002564,HP:0002565 | Any structural anomaly of the heart and blood vessels. |
| Abnormal ocular adnexa morphology | HP:0030669 | None | A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. |
| Acute coronary syndrome | HP:0033678 | None | The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI). |
| Tooth malposition | HP:0000692 | HP:0000693,HP:0001569,HP:0006303,HP:0006478 | Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. |
| Dental malocclusion | HP:0000689 | None | 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. |
| Abnormal nervous system physiology | HP:0012638 | None | A functional anomaly of the nervous system. |
| Abnormal nervous system morphology | HP:0012639 | None | A structural anomaly of the nervous system. |
| Proptosis | HP:0000520 | HP:0000536,HP:0000644,HP:0000645,HP:0007711,HP:0007870 | An eye that is protruding anterior to the plane of the face to a greater extent than is typical. |
| Nystagmus | HP:0000639 | None | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| Blue irides | HP:0000635 | None | A markedly blue coloration of the iris. |
| Epicanthus | HP:0000286 | HP:0000624,HP:0007930 | A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. |
| Lymphedema | HP:0001004 | HP:0003605 | Localized fluid retention and tissue swelling caused by a compromised lymphatic system. |
| Abnormality of the hairline | HP:0009553 | None | The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. |
| Delayed menarche | HP:0012569 | None | First period after the age of 15 years. |
| Abnormality of the ear | HP:0000598 | None | An abnormality of the ear. |
| Abnormal involuntary eye movements | HP:0012547 | None | Anomalous movements of the eyes that occur without the subject wanting them to happen. |
| Hypertelorism | HP:0000316 | HP:0000578,HP:0002001,HP:0004657,HP:0007871 | Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). |
| Pain | HP:0012531 | None | An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. |
| Abnormal conjugate eye movement | HP:0000549 | None | Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. |
| Myopia | HP:0000545 | HP:0001110,HP:0007847,HP:0008012 | An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. |
| Abnormality of refraction | HP:0000539 | None | An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. |
| Abnormality iris morphology | HP:0000525 | None | An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. |
| Ptosis | HP:0000508 | None | The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). |
| Soft tissue sarcoma | HP:0030448 | None | A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues. |
| Bowing of the long bones | HP:0006487 | HP:0002976,HP:0005087,HP:0005908,HP:0006404,HP:0006451,HP:0006452 | A bending or abnormal curvature of a long bone. |
| Deviation of the hand or of fingers of the hand | HP:0009484 | None | Displacement of the hand or of fingers of the hand from their normal position. |
| Radial deviation of the hand or of fingers of the hand | HP:0009485 | None | None |
| Thick vermilion border | HP:0012471 | None | Increased width of the skin of vermilion border region of upper lip. |
| Radial deviation of finger | HP:0009466 | HP:0001157,HP:0001213,HP:0001503 | Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. |
| Abnormal lower lip morphology | HP:0000178 | None | An abnormality of the lower lip. |
| Abnormal eyelid morphology | HP:0000492 | HP:0000285 | An abnormality of the eyelids. |
| Abnormal eye morphology | HP:0012372 | HP:0000489,HP:0012374 | A structural anomaly of the globe of the eye, or bulbus oculi. |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Thickened nuchal skin fold | HP:0000474 | HP:0000477 | A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. |
| Cystic hygroma | HP:0000476 | None | A cystic lymphatic lesion of the neck. |
| Short neck | HP:0000470 | HP:0005992,HP:0200137 | Diminished length of the neck. |
| Webbed neck | HP:0000465 | None | Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. |
| Abnormality of the neck | HP:0000464 | None | An abnormality of the neck. |
| Depressed nasal ridge | HP:0000457 | None | Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. |
| Wide nasal bridge | HP:0000431 | HP:0000424,HP:0004500,HP:0004504,HP:0004650,HP:0200139 | Increased breadth of the nasal bridge (and with it, the nasal root). |
| Kyphoscoliosis | HP:0002751 | HP:0003412,HP:0003424,HP:0004593,HP:0005728 | An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. |
| Abnormal nasal bridge morphology | HP:0000422 | HP:0000423 | Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. |
| Scoliosis | HP:0002650 | HP:0002770,HP:0003303,HP:0003317,HP:0003415 | The presence of an abnormal lateral curvature of the spine. |
| Protruding ear | HP:0000411 | HP:0000412 | Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). |
| Sensorineural hearing impairment | HP:0000407 | HP:0000374,HP:0001753,HP:0001916,HP:0008538,HP:0008553,HP:0008565,HP:0008576,HP:0008611,HP:0008613,HP:0008614 | A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. |
| Hearing impairment | HP:0000365 | HP:0000404,HP:0001728,HP:0001729,HP:0001754,HP:0008560,HP:0008563 | A decreased magnitude of the sensory perception of sound. |
| Abnormal blood vessel morphology | HP:0033353 | None | Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). |
| Abnormality of the dentition | HP:0000164 | HP:0001567,HP:0006296,HP:0006348 | Any abnormality of the teeth. |
| Micrognathia | HP:0000347 | HP:0000210,HP:0000330,HP:0000345,HP:0002005,HP:0002674,HP:0004669,HP:0005460,HP:0005470 | Developmental hypoplasia of the mandible. |
| Low-set, posteriorly rotated ears | HP:0000368 | None | Ears that are low-set and posteriorly rotated. |
| Low-set ears | HP:0000369 | None | Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. |
| Abnormality of the nose | HP:0000366 | None | An abnormality of the nose. |
| Abnormal homeostasis | HP:0012337 | None | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| Abnormal pinna morphology | HP:0000377 | HP:0000390,HP:0000398,HP:0004465,HP:0008562,HP:0008566,HP:0008567,HP:0008572,HP:0008580,HP:0008582,HP:0008594,HP:0008602,HP:0040111 | An abnormality of the pinna, which is also referred to as the auricle or external ear. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Thickened helices | HP:0000391 | None | Increased thickness of the helix of the ear. |
| Abnormal helix morphology | HP:0011039 | HP:0000380 | An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. |
| Hearing abnormality | HP:0000364 | None | An abnormality of the sensory perception of sound. |
| Myeloid leukemia | HP:0012324 | None | A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. |
| Abnormal location of ears | HP:0000357 | None | Abnormal location of the ear. |
| Abnormality of the inner ear | HP:0000359 | None | An abnormality of the inner ear. |
| Posteriorly rotated ears | HP:0000358 | HP:0008535 | A type of abnormal location of the ears 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). |
| Abnormality of the outer ear | HP:0000356 | HP:0001752 | An abnormality of the external ear. |
| Abnormality of the immune system | HP:0002715 | HP:0003257,HP:0003346,HP:0010986 | An abnormality of the immune system. |
| Hypogonadotropic hypogonadism | HP:0000044 | HP:0003335,HP:0008224 | Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). |
| Triangular face | HP:0000325 | HP:0004645,HP:0004662,HP:0004668 | Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. |
| Mandibular prognathia | HP:0000303 | HP:0000251,HP:0000279,HP:0000328,HP:0002051,HP:0004648,HP:0004656,HP:0008514 | Abnormal prominence of the chin related to increased length of the mandible. |
| Abnormality of the cervical spine | HP:0003319 | HP:0004587 | Any abnormality of the cervical vertebral column. |
| Kyphosis | HP:0002808 | HP:0002769,HP:0003314 | Exaggerated anterior convexity of the thoracic vertebral column. |
| Abnormality of the orbital region | HP:0000315 | HP:0000284 | None |
| Abnormality of the chin | HP:0000306 | None | An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. |
| Male infertility | HP:0003251 | None | None |
| Abnormality of the coagulation cascade | HP:0003256 | HP:0001925 | An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. |
| Visceromegaly | HP:0003271 | None | Abnormal increased size of the viscera of the abdomen. |
| Spina bifida occulta | HP:0003298 | None | The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. |
| Abnormality of the forehead | HP:0000290 | None | An anomaly of the forehead. |
| Abnormal respiratory system morphology | HP:0012252 | None | A structural anomaly of the respiratory system. |
| Abnormal reproductive system morphology | HP:0012243 | None | A structural or developmental anomaly of any of the tissues involved in the genital system. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Abnormal mandible morphology | HP:0000277 | HP:0000209 | Any abnormality of the mandible, the bone of the lower jaw. |
| Macrocephaly | HP:0000256 | HP:0005491,HP:0005496,HP:0200135 | Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. |
| Brachycephaly | HP:0000248 | HP:0002258,HP:0004479,HP:0008512 | An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. |
| Abnormality of skull size | HP:0000240 | None | Any abnormality of the size of the skull. |
| Parietal bossing | HP:0000242 | HP:0004641 | Parietal bossing is a marked prominence in the parietal region. |
| Deviation of finger | HP:0004097 | HP:0006229 | Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges. |
| Juvenile myelomonocytic leukemia | HP:0012209 | None | Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor. |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| High palate | HP:0000218 | HP:0000156,HP:0009080,HP:0009082,HP:0009097 | 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). |
| Abnormality of the posterior hairline | HP:0030141 | None | An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair. |
| Abnormality of blood and blood-forming tissues | HP:0001871 | HP:0003135 | An abnormality of the hematopoietic system. |
| Abnormality of the cardiovascular system | HP:0001626 | HP:0003116 | Any abnormality of the cardiovascular system. |
| Abnormality of the musculoskeletal system | HP:0033127 | None | An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. |
| Clinodactyly of the 5th finger | HP:0004209 | HP:0001158,HP:0001588,HP:0004212,HP:0006083,HP:0006181,HP:0009181 | Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). |
| Deviation of the 5th finger | HP:0009179 | HP:0006036 | Displacement of the 5th finger from its normal position. |
| Narrow palate | HP:0000189 | None | Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). |
| Thick lower lip vermilion | HP:0000179 | HP:0000170 | Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). |
| Abnormal palate morphology | HP:0000174 | None | Any abnormality of the palate, i.e., of roof of the mouth. |
| Abnormal oral cavity morphology | HP:0000163 | None | Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. |
| Abnormal lip morphology | HP:0000159 | None | An abnormality of the lip. |
| Abnormality of the mouth | HP:0000153 | None | An abnormality of the mouth. |
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Decreased fertility | HP:0000144 | None | None |
| Abnormality of the menstrual cycle | HP:0000140 | None | An abnormality of the ovulation cycle. |
| Abnormality of the musculature of the limbs | HP:0009127 | None | None |
| Abnormality of the ovary | HP:0000137 | None | An abnormality of the ovary. |
| Hypogonadism | HP:0000135 | None | A decreased functionality of the gonad. |
| Aplasia/hypoplasia affecting bones of the axial skeleton | HP:0009122 | None | Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. |
| Abnormal axial skeleton morphology | HP:0009121 | None | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| Aplasia/Hypoplasia of the mandible | HP:0009118 | None | Absence or underdevelopment of the mandible. |
| Aplasia/Hypoplasia involving bones of the skull | HP:0009116 | None | None |
| Aplasia/hypoplasia involving the skeleton | HP:0009115 | None | Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. |
| Unilateral renal agenesis | HP:0000122 | None | A unilateral form of agenesis of the kidney. |
| Abnormal EKG | HP:0003115 | None | Abnormal rhythm of the heart. |
| Abnormality of the genitourinary system | HP:0000119 | HP:0008658,HP:0008688,HP:0008704,HP:0008713 | The presence of any abnormality of the genitourinary system. |
| Phenotypic abnormality | HP:0000118 | None | A phenotypic abnormality. |
| Limitation of joint mobility | HP:0001376 | HP:0003101 | A reduction in the freedom of movement of one or more joints. |
| Abnormal heart morphology | HP:0001627 | HP:3000001 | Any structural anomaly of the heart. |
| Enchondroma | HP:0030038 | None | A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus. |
| Abnormal female reproductive system physiology | HP:0030012 | None | None |
| Clinodactyly | HP:0030084 | None | An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). |
| Nervous tissue neoplasm | HP:0030060 | None | A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system). |
| Neuroectodermal neoplasm | HP:0030061 | None | A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. |
| Neuroepithelial neoplasm | HP:0030063 | None | A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium. |
| Primitive neuroectodermal tumor | HP:0030065 | None | A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation. |
| Abnormal hand morphology | HP:0005922 | HP:0003098 | Any structural anomaly of the hand. |
| Abnormality of the lymphatic system | HP:0100763 | HP:0003012 | An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. |
| Abnormal finger morphology | HP:0001167 | HP:0003035 | An anomaly of a finger. |
| Neural tube defect | HP:0045005 | None | A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. |
| Abnormal morphology of the radius | HP:0002818 | HP:0045009 | An abnormality of the radius. |
| Abnormality of reproductive system physiology | HP:0000080 | None | An abnormal functionality of the genital system. |
| Decreased fertility in males | HP:0012041 | None | None |
| Abnormality of the urinary system | HP:0000079 | None | An abnormality of the urinary system. |
| Abnormality of the genital system | HP:0000078 | None | An abnormality of the genital system. |
| Abnormality of the kidney | HP:0000077 | None | An abnormality of the kidney. |
| Muscle weakness | HP:0001324 | HP:0002309,HP:0008979,HP:0009012,HP:0009061 | Reduced strength of muscles. |
| Abnormal cellular immune system morphology | HP:0010987 | None | An abnormality of the morphology or counts of the cells that make up the immune system. |
| Abnormality of the intrinsic pathway | HP:0010989 | None | An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. |
| Abnormal external nose morphology | HP:0010938 | None | An abnormality of the external nose. |
| Abnormality of the upper urinary tract | HP:0010935 | None | An abnormality of the upper urinary tract. |
| Abnormality of the lower urinary tract | HP:0010936 | None | An abnormality of the lower urinary tract. |
| Abnormal renal pelvis morphology | HP:0010944 | None | An abnormality of the renal pelvis. |
| Dilatation of the renal pelvis | HP:0010946 | None | The presence of dilatation of the renal pelvis. |
| Abnormal facial shape | HP:0001999 | HP:0002004,HP:0002260,HP:0004643,HP:0004649,HP:0004652,HP:0004655,HP:0004675,HP:0005124 | An abnormal morphology (form) of the face or its components. |
| Neurofibrosarcoma | HP:0100697 | None | A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma. |
| Abnormality of the hand | HP:0001155 | HP:0005858 | An abnormality affecting one or both hands. |
| Premature skin wrinkling | HP:0100678 | HP:0200074 | The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. |
| Abnormal scalp morphology | HP:0001965 | None | Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. |
| Subcutaneous hemorrhage | HP:0001933 | None | This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0002146,HP:0004355,HP:0004367 | None |
| Abnormality of coagulation | HP:0001928 | None | An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. |
| Displacement of the urethral meatus | HP:0100627 | None | A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). |
| Enlarged thorax | HP:0100625 | None | None |
| Thrombocytopenia | HP:0001873 | HP:0001906,HP:0004838,HP:0008175,HP:0008268,HP:0008302 | A reduction in the number of circulating thrombocytes. |
| Abnormal oral morphology | HP:0031816 | None | Any structural anomaly of the mouth, which is also known as the oral cavity. |
| Avascular necrosis | HP:0010885 | None | A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. |
| Abnormal bleeding | HP:0001892 | HP:0004830,HP:0004834,HP:0004849,HP:0004862,HP:0004865,HP:0008183 | An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. |
| Abnormal leukocyte morphology | HP:0001881 | None | An abnormality of leukocytes. |
| Abnormality of thrombocytes | HP:0001872 | HP:0004807,HP:0005554 | An abnormality of platelets. |
| Amegakaryocytic thrombocytopenia | HP:0004859 | None | Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. |
| Reduced factor XII activity | HP:0004841 | HP:0005514,HP:0005551,HP:0008286 | Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. |
| Abnormal localization of kidney | HP:0100542 | None | An abnormal site of the kidney. |
| Decreased body weight | HP:0004325 | HP:0001823,HP:0001826 | Abnormally low body weight. |
| All | HP:0000001 | None | None |
| Abnormal hair pattern | HP:0010720 | None | An abnormality of the distribution of hair growth. |
| Abnormal cardiac septum morphology | HP:0001671 | HP:0001690,HP:0004760 | An anomaly of the intra-atrial or intraventricular septum. |
| Abnormality of the spleen | HP:0001743 | None | An abnormality of the spleen. |
| Renal hypoplasia/aplasia | HP:0008678 | HP:0004744,HP:0008701 | Absence or underdevelopment of the kidney. |
| Abnormal left ventricle morphology | HP:0001711 | None | Any structural abnormality of the left ventricle of the heart. |
| Abnormal cardiac ventricle morphology | HP:0001713 | None | An abnormality of a cardiac ventricle. |
| Abnormal heart valve morphology | HP:0001654 | HP:0001703 | Any structural abnormality of a cardiac valve. |
| Third degree atrioventricular block | HP:0001709 | None | Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. |
| Abnormal pulmonary valve physiology | HP:0031654 | None | Any functional anomaly of the pumonary valve. |
| Abnormal heart valve physiology | HP:0031653 | None | Any functional abnormality of a cardiac valve. |
| Neoplasm of the skeletal system | HP:0010622 | None | A tumor (abnormal growth of tissue) of the skeleton. |
| Abnormal elasticity of skin | HP:0010647 | None | Any abnormal increase or reduction in skin elasticity. |
| Abnormal neck morphology | HP:0025668 | None | Any structural anomaly of the neck region. |
| Fetal neck anomaly | HP:0025667 | None | A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. |
| Abnormal curvature of the vertebral column | HP:0010674 | None | The presence of an abnormal curvature of the vertebral column. |
| Subvalvular aortic stenosis | HP:0001682 | None | A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. |
| Coarctation of aorta | HP:0001680 | None | Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. |
| Myocardial infarction | HP:0001658 | None | Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. |
| Ventricular septal defect | HP:0001629 | HP:0001652 | A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. |
| Abnormality of limb bone | HP:0040068 | None | None |
| Abnormal upper limb bone morphology | HP:0040070 | None | None |
| Pulmonic stenosis | HP:0001642 | None | A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). |
| Abnormal pulmonary valve morphology | HP:0001641 | None | Any structural abnormality of the pulmonary valve. |
| Hypertrophic cardiomyopathy | HP:0001639 | None | Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. |
| Cardiomyopathy | HP:0001638 | None | A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. |
| Abnormal myocardium morphology | HP:0001637 | None | A structural anomaly of the muscle layer of the heart wall. |
| Mitral valve prolapse | HP:0001634 | None | One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. |
| Abnormal mitral valve morphology | HP:0001633 | HP:0031477 | Any structural anomaly of the mitral valve. |
| Atrial septal defect | HP:0001631 | HP:0001630 | Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. |
| Abnormal ventricular septum morphology | HP:0010438 | HP:0001628 | A structural abnormality of the interventricular septum. |
| Abnormality of the voice | HP:0001608 | None | None |
| Cardiac conduction abnormality | HP:0031546 | None | Any anomaly of the progression of electrical impulses through the heart. |
| Synostosis involving bones of the upper limbs | HP:0100238 | None | An abnormal union between bones or parts of bones of the upper limbs. |
| Sarcoma | HP:0100242 | None | A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. |
| Synostosis of joints | HP:0100240 | None | The abnormal fusion of neighboring bones across a joint. |
| Prematurely aged appearance | HP:0007495 | HP:0001599 | None |
| Abnormal hair morphology | HP:0001595 | None | An abnormality of the hair. |
| Abnormal rib cage morphology | HP:0001547 | None | A morphological anomaly of the rib cage. |
| Failure to thrive | HP:0001508 | HP:0001535,HP:0008853,HP:0008878,HP:0008916 | Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. |
| Growth delay | HP:0001510 | HP:0001434,HP:0001512,HP:0001514,HP:0001517,HP:0001532,HP:0008847,HP:0008870,HP:0008886,HP:0008893,HP:0008926 | A deficiency or slowing down of growth pre- and postnatally. |
| Failure to thrive in infancy | HP:0001531 | HP:0008863,HP:0008925 | None |
| Intrauterine growth retardation | HP:0001511 | HP:0001515,HP:0008862,HP:0008892,HP:0008931 | An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. |
| Growth abnormality | HP:0001507 | HP:0008904 | None |
| Abnormal nipple morphology | HP:0004404 | None | An abnormality of the nipple. |
| Abnormality of the sense of smell | HP:0004408 | HP:0004410 | An anomaly in the ability to perceive and distinguish scents (odors). |
| Hyposmia | HP:0004409 | None | A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). |
| Abnormality of the pulmonary artery | HP:0004414 | None | An abnormality of the pulmonary artery. |
| Pulmonary artery stenosis | HP:0004415 | None | An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. |
| Abnormality of the female genitalia | HP:0010460 | None | Abnormality of the female genital system. |
| Abnormality of the male genitalia | HP:0010461 | None | Abnormality of the male genital system. |
| Aplasia/Hypoplasia of the ovary | HP:0010462 | None | Aplasia or developmental hypoplasia of the ovary. |
| Aplasia of the ovary | HP:0010463 | None | Aplasia, that is failure to develop, of the ovary. |
| Abnormal communication | HP:0034434 | None | Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level. |
| Abnormal joint physiology | HP:0034430 | None | None |
| Subcutaneous nodule | HP:0001482 | HP:0005903 | Slightly elevated lesions on or in the skin with a diameter of over 5 mm. |
| Freckling | HP:0001480 | None | The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. |
| Abnormal dermatoglyphics | HP:0007477 | HP:0007422 | An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. |
| Abnormality of the abdominal wall | HP:0004298 | HP:0001462 | The presence of any abnormality affecting the abdominal wall. |
| Abnormality of the musculature of the upper limbs | HP:0001446 | None | None |
| Abnormal morphology of ulna | HP:0040071 | HP:0002997 | Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger. |
| Abnormal forearm bone morphology | HP:0040072 | HP:0040073 | None |
| Abnormality of limbs | HP:0040064 | None | None |
| Abnormal abdomen morphology | HP:0001438 | None | A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. |
| Abnormality of the shoulder girdle musculature | HP:0001435 | HP:0004301 | None |
| Irregular hyperpigmentation | HP:0007400 | None | None |
| Abnormality of the scalp hair | HP:0100037 | None | An abnormality of the hair of head. |
| Neoplasm of the central nervous system | HP:0100006 | None | A neoplasm of the central nervous system. |
| Reduced bone mineral density | HP:0004349 | None | A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. |
| Neoplasm of the nervous system | HP:0004375 | None | A tumor (abnormal growth of tissue) of the nervous system. |
| Neuroblastic tumor | HP:0004376 | None | A family of tumors arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. |
| Hematological neoplasm | HP:0004377 | None | Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). |
| Excessive wrinkled skin | HP:0007392 | None | None |
| Mendelian inheritance | HP:0034345 | None | A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel. |
| Inheritance qualifier | HP:0034335 | None | The terms in this hierarchy can be used to specificy the context in which inheritance of a disease is typically observed. |
| Hepatomegaly | HP:0002240 | HP:0001393,HP:0001398 | Abnormally increased size of the liver. |
| Abnormal joint morphology | HP:0001367 | None | An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. |
| Aplasia/Hypoplasia of the abdominal wall musculature | HP:0010318 | None | Absence or underdevelopment of the abdominal musculature. |
| Chylothorax | HP:0010310 | None | Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. |
| Spinal dysraphism | HP:0010301 | None | A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. |
| Abnormal anterior eye segment morphology | HP:0004328 | None | An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). |
| Morphological central nervous system abnormality | HP:0002011 | HP:0002405,HP:0002413,HP:0002481,HP:0007319 | A structural abnormality of the central nervous system. |
| Abnormal endocardium morphology | HP:0004306 | HP:0005260 | An abnormality of the endocardium. |
| Dysarthria | HP:0001260 | HP:0002327 | Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. |
| Hypotonia | HP:0001252 | HP:0011398 | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| Abnormal 5th finger morphology | HP:0004207 | None | An abnormality affecting one or both 5th fingers. |
| Midface retrusion | HP:0011800 | HP:0040199 | Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. |
| Increased head circumference | HP:0040194 | None | An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. |
| Abnormal intermamillary distance | HP:0040157 | None | None |
| Constitutional symptom | HP:0025142 | None | A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. |
| Abnormality of prenatal development or birth | HP:0001197 | None | An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. |
| Finger clinodactyly | HP:0040019 | None | None |
| Fetal anomaly | HP:0034057 | None | Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. |
| Abnormal fetal morphology | HP:0034058 | None | Any structural anomaly of the fetus. |
| Abnormality of digestive system physiology | HP:0025032 | None | A functional anomaly of the digestive system. |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Abnormal vascular morphology | HP:0025015 | None | None |
| Multiple lentigines | HP:0001003 | None | Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. |
| Abnormal neural tube morphology | HP:0410043 | None | Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). |
| Abnormal liver morphology | HP:0410042 | None | Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. |
| Abnormal cartilage morphology | HP:0002763 | HP:0410007 | Any morphological abnormality of cartilage. |
| Abnormal atrial septum morphology | HP:0011994 | None | An abnormality of the interatrial septum. |
| Feeding difficulties | HP:0011968 | None | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| Short digit | HP:0011927 | None | One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. |
| Abnormal forearm morphology | HP:0002973 | None | An abnormality of the lower arm. |
| Cubitus valgus | HP:0002967 | None | Abnormal positioning in which the elbows are turned out. |
| Abnormal respiratory system physiology | HP:0002795 | HP:0005952 | None |
| Postnatal growth retardation | HP:0008897 | HP:0008844,HP:0008865,HP:0008868,HP:0008901,HP:0008918 | Slow or limited growth after birth. |
| Abnormal platelet morphology | HP:0011875 | None | An anomaly in platelet form, ultrastructure, or intracellular organelles. |
| Abnormal platelet count | HP:0011873 | None | Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. |
| Abnormal platelet function | HP:0011869 | None | Any anomaly in the function of thrombocytes. |
| Feeding difficulties in infancy | HP:0008872 | HP:0002016,HP:0002022,HP:0002568 | Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. |
| Abnormal appendicular skeleton morphology | HP:0011844 | None | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| Abnormal skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormal facial skeleton morphology | HP:0011821 | None | An abnormality of one or more of the set of bones that make up the facial skeleton. |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| Abnormal limb bone morphology | HP:0002813 | None | Any abnormality of bones of the arms or legs. |
| Multiple enchondromatosis | HP:0005701 | None | None |
| Neoplasm by anatomical site | HP:0011793 | None | Neoplasm categorized according to the anatomical site of origin of the neoplasm. |
| Neoplasm by histology | HP:0011792 | None | Neoplasm categorized according to type of histological abnormality. |
| Multiple exostoses | HP:0002762 | None | Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. |
| Abnormality of joint mobility | HP:0011729 | None | An abnormality in the range and ease of motion of joints across their normal range. |
| Bundle branch block | HP:0011710 | None | Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches. |
| Hypoplasia of penis | HP:0008736 | HP:0008632 | None |
| Hypoplasia of the ovary | HP:0008724 | None | Developmental hypoplasia of the ovary. |
| High, narrow palate | HP:0002705 | None | The presence of a high and narrow palate. |
| Craniofacial cleft | HP:5201015 | None | Congenital abnormality with cleft (gap or opening) in the craniofacial bones. Craniofacial cleft includes facial cleft, orofacial clef, and cleft of the jaw. |
| Multiple digital exostoses | HP:0005655 | None | Multiple exostoses originating in the fingers and toes. |
| Coarse hair | HP:0002208 | HP:0200078 | Hair shafts are rough in texture. |
| Abnormal parietal bone morphology | HP:0002696 | None | Any abnormality of the parietal bone of the skull. |
| Bone pain | HP:0002653 | None | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. |
| Skin nodule | HP:0200036 | None | Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. |
| Congenital malformation of the great arteries | HP:0011603 | None | Defect or defects of the morphogenesis of the aorta and pulmonary arteries. |
| Severe sensorineural hearing impairment | HP:0008625 | HP:0008534,HP:0008574 | A severe form of sensorineural hearing impairment. |
| Vascular dilatation | HP:0002617 | None | Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. |
| Slanting of the palpebral fissure | HP:0200006 | None | None |
| Abnormality of the vasculature | HP:0002597 | None | An abnormality of the vasculature. |
| Abdominal symptom | HP:0011458 | None | A subjective manifestation of disease localized to the abdomen. |
| Abnormality of mental function | HP:0011446 | None | Cognitive, psychiatric, or memory anomaly. |
| Fetal ultrasound soft marker | HP:0011425 | None | An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. |
| Spina bifida | HP:0002414 | None | Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. |
| Abnormal inner ear morphology | HP:0011390 | None | A structural anomaly of the internal part of the ear. |
| Functional abnormality of the inner ear | HP:0011389 | None | An abnormality of the function of the inner ear. |
| Aplasia of the semicircular canal | HP:0011381 | None | Absence of the semicircular canal. |
| Abnormal semicircular canal morphology | HP:0011380 | None | An abnormality of the morphology of the semicircular canal. |
| Abnormal morphology of the vestibule of the inner ear | HP:0011376 | None | A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. |
| Abnormal hair quantity | HP:0011362 | HP:0002115,HP:0011357 | An abnormal amount of hair. |
| Congenital abnormal hair pattern | HP:0011361 | None | A congenital abnormality of the distribution of hair growth. |
| Generalized abnormality of skin | HP:0011354 | None | An abnormality of the skin that is not localized to any one particular region. |
| Localized skin lesion | HP:0011355 | None | A lesion of the skin that is located in a specific region rather than being generalized. |
| Regional abnormality of skin | HP:0011356 | None | An abnormality of the skin that is restricted to a particular body region. |
| Reduced factor XIII activity | HP:0008357 | None | Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. |
| Abnormal synovial membrane morphology | HP:0005262 | None | Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products. |
| Abnormal immune system morphology | HP:0032251 | None | None |
| Vascular skin abnormality | HP:0011276 | None | None |
| Pleural effusion | HP:0002202 | None | The presence of an excessive amount of fluid in the pleural cavity. |
| Abnormal atrioventricular conduction | HP:0005150 | None | An impairment of the electrical continuity between the atria and ventricles. |
| Abnormal cardiac atrium morphology | HP:0005120 | None | Any structural abnormality of a cardiac atrium. |
| Abnormal skin adnexa morphology | HP:0011138 | None | An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. |
| Abnormality of speech or vocalization | HP:0002167 | None | Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering. |
| Low posterior hairline | HP:0002162 | None | Hair on the neck extends more inferiorly than usual. |
| Abnormal skin morphology | HP:0011121 | None | Any morphological abnormality of the skin. |
| Abnormal nasal dorsum morphology | HP:0011119 | None | An abnormality of the nasal dorsum, also known as the nasal ridge. |
| Abnormal spinal cord morphology | HP:0002143 | None | A structural abnormality of the spinal cord (myelon). |
| Abnormal left ventricular outflow tract morphology | HP:0011103 | None | An abnormality of the outflow tract of the left ventricle. |
| Abnormal nasal morphology | HP:0005105 | None | None |
| Abnormal pleura morphology | HP:0002103 | None | An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. |
| Abnormal male urethral meatus morphology | HP:0032076 | None | None |
| Abnormality of the ocular adnexa | HP:0032039 | None | An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. |
| Abnormal lung morphology | HP:0002088 | None | Any structural anomaly of the lung. |
| Abnormality of the respiratory system | HP:0002086 | None | An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. |
| Abnormally lax or hyperextensible skin | HP:0008067 | None | None |
| Abnormality of fluid regulation | HP:0011032 | None | An abnormality of the regulation of body fluids. |
| Abnormality of the palpebral fissures | HP:0008050 | None | An anomaly of the space between the medial and lateral canthi of the two open eyelids. |
| Abnormal cardiovascular system physiology | HP:0011025 | None | Abnormal functionality of the cardiovascular system. |
| Intellectual disability | HP:0001249 | HP:0000730,HP:0001267,HP:0001286,HP:0002122,HP:0002192,HP:0002316,HP:0002382,HP:0002386,HP:0002402,HP:0002458,HP:0002482,HP:0002499,HP:0002543,HP:0003767,HP:0006833,HP:0006877,HP:0007154,HP:0007176,HP:0007180 | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| Abnormal skeletal muscle morphology | HP:0011805 | HP:0003735 | A structural abnormality of a skeletal muscle. |
| Atrioventricular block | HP:0001678 | HP:0001668,HP:0005142,HP:0006672 | Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. |
| Short stature | HP:0004322 | HP:0001509,HP:0003501,HP:0003507,HP:0003512,HP:0003518,HP:0003519,HP:0008871,HP:0008882,HP:0008888,HP:0008913 | 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). |
| Downslanted palpebral fissures | HP:0000494 | HP:0007714,HP:0007908 | The palpebral fissure inclination is more than two standard deviations below the mean. |
| Strabismus | HP:0000486 | HP:0000487 | A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. |
| Abnormal bone structure | HP:0003330 | None | Any anomaly in the composite material or the layered arrangement of the bony skeleton. |
| Abnormal midface morphology | HP:0000309 | HP:0430026 | An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. |
| Orofacial cleft | HP:0000202 | None | The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. |
| Cleft palate | HP:0000175 | HP:0410004 | Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). |
| Brachydactyly | HP:0001156 | HP:0001189,HP:0001201,HP:0005630,HP:0005657,HP:0005727,HP:0006017,HP:0006128,HP:0100667 | Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. |
| Peripheral primitive neuroectodermal neoplasm | HP:0030067 | None | A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone. |