From HPO
Lipoma- MedGen UID:
- 44173
- •Concept ID:
- C0023798
- •
- Neoplastic Process
Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.
Pheochromocytoma- MedGen UID:
- 18419
- •Concept ID:
- C0031511
- •
- Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
Rhabdomyosarcoma- MedGen UID:
- 20561
- •Concept ID:
- C0035412
- •
- Neoplastic Process
A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.
Embryonal rhabdomyosarcoma- MedGen UID:
- 104910
- •Concept ID:
- C0206656
- •
- Neoplastic Process
A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.
Neurofibrosarcoma- MedGen UID:
- 104927
- •Concept ID:
- C0206729
- •
- Neoplastic Process
A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.
Medullary thyroid carcinoma- MedGen UID:
- 66772
- •Concept ID:
- C0238462
- •
- Neoplastic Process
The presence of a medullary carcinoma of the thyroid gland.
Parathyroid gland adenoma- MedGen UID:
- 75502
- •Concept ID:
- C0262587
- •
- Neoplastic Process
A benign tumor of the parathyroid gland that can cause hyperparathyroidism.
Genu valgum- MedGen UID:
- 154364
- •Concept ID:
- C0576093
- •
- Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Coarctation of aorta- MedGen UID:
- 1617
- •Concept ID:
- C0003492
- •
- Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Hypertrophic cardiomyopathy- MedGen UID:
- 2881
- •Concept ID:
- C0007194
- •
- Disease or Syndrome
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.
Atrial septal defect- MedGen UID:
- 6753
- •Concept ID:
- C0018817
- •
- Congenital Abnormality
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.
Ventricular septal defect- MedGen UID:
- 42366
- •Concept ID:
- C0018818
- •
- Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Mitral stenosis- MedGen UID:
- 44466
- •Concept ID:
- C0026269
- •
- Disease or Syndrome
An abnormal narrowing of the orifice of the mitral valve.
Renal artery stenosis- MedGen UID:
- 19727
- •Concept ID:
- C0035067
- •
- Disease or Syndrome
The presence of stenosis of the renal artery.
Pulmonic stenosis- MedGen UID:
- 408291
- •Concept ID:
- C1956257
- •
- Disease or Syndrome
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).
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
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).
Overgrowth- MedGen UID:
- 376550
- •Concept ID:
- C1849265
- •
- Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Colon cancer- MedGen UID:
- 2839
- •Concept ID:
- C0007102
- •
- Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Low-set ears- MedGen UID:
- 65980
- •Concept ID:
- C0239234
- •
- Congenital Abnormality
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.
Astrocytoma- MedGen UID:
- 438
- •Concept ID:
- C0004114
- •
- Neoplastic Process
Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.
Glioma- MedGen UID:
- 9030
- •Concept ID:
- C0017638
- •
- Neoplastic Process
The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).
Hydrocephalus- MedGen UID:
- 9335
- •Concept ID:
- C0020255
- •
- Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Meningioma- MedGen UID:
- 7532
- •Concept ID:
- C0025286
- •
- Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Intellectual disability, mild- MedGen UID:
- 10044
- •Concept ID:
- C0026106
- •
- Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Neurofibroma- MedGen UID:
- 45058
- •Concept ID:
- C0027830
- •
- Neoplastic Process
A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Spina bifida- MedGen UID:
- 38283
- •Concept ID:
- C0080178
- •
- Congenital Abnormality
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.
Plexiform neurofibroma- MedGen UID:
- 64640
- •Concept ID:
- C0206728
- •
- Neoplastic Process
A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.
Aqueductal stenosis- MedGen UID:
- 75614
- •Concept ID:
- C0266476
- •
- Congenital Abnormality
Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.
Pilocytic astrocytoma- MedGen UID:
- 87271
- •Concept ID:
- C0334583
- •
- Neoplastic Process
The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signaling pathway abnormalities.
Optic nerve glioma- MedGen UID:
- 138056
- •Concept ID:
- C0346326
- •
- Neoplastic Process
A glioma originating in the optic nerve or optic chiasm.
Hypsarrhythmia- MedGen UID:
- 195766
- •Concept ID:
- C0684276
- •
- Finding
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
Cerebellar glioma- MedGen UID:
- 869274
- •Concept ID:
- C4023700
- •
- Neoplastic Process
A glioma affecting the cerebellum.
Spinal neurofibroma- MedGen UID:
- 869787
- •Concept ID:
- C4024217
- •
- Neoplastic Process
A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.
Specific learning disability- MedGen UID:
- 871302
- •Concept ID:
- C4025790
- •
- Mental or Behavioral Dysfunction
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.
Kyphosis- MedGen UID:
- 44042
- •Concept ID:
- C0022821
- •
- Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Pectus carinatum- MedGen UID:
- 57643
- •Concept ID:
- C0158731
- •
- Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Pectus excavatum- MedGen UID:
- 781174
- •Concept ID:
- C2051831
- •
- Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Macrocephaly- MedGen UID:
- 745757
- •Concept ID:
- C2243051
- •
- Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Tibial pseudarthrosis- MedGen UID:
- 869786
- •Concept ID:
- C4024216
- •
- Pathologic Function
Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.
Pericarditis- MedGen UID:
- 18377
- •Concept ID:
- C0031046
- •
- Disease or Syndrome
Inflammation of the sac-like covering around the heart (pericardium).
Webbed neck- MedGen UID:
- 113154
- •Concept ID:
- C0221217
- •
- Congenital Abnormality
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.
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Freckling- MedGen UID:
- 5272
- •Concept ID:
- C0016689
- •
- Finding
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.
Inguinal freckling- MedGen UID:
- 320315
- •Concept ID:
- C1834297
- •
- Finding
The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Axillary freckling- MedGen UID:
- 348082
- •Concept ID:
- C1860335
- •
- Finding
The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Cafe au lait spots, multiple- MedGen UID:
- 396266
- •Concept ID:
- C1861975
- •
- Disease or Syndrome
The presence of six or more cafe-au-lait spots.
Hypopigmented macule- MedGen UID:
- 760487
- •Concept ID:
- C2047793
- •
- Finding
A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.
Few cafe-au-lait spots- MedGen UID:
- 870435
- •Concept ID:
- C4024881
- •
- Finding
The presence of two to five cafe-au-lait macules.
Breast carcinoma- MedGen UID:
- 146260
- •Concept ID:
- C0678222
- •
- Neoplastic Process
The presence of a carcinoma of the breast.
Glaucoma- MedGen UID:
- 42224
- •Concept ID:
- C0017601
- •
- Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Hypertelorism- MedGen UID:
- 9373
- •Concept ID:
- C0020534
- •
- Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Lisch nodules- MedGen UID:
- 395461
- •Concept ID:
- C1860334
- •
- Finding
The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the breast
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation
- Growth abnormality
- Neoplasm