- Abnormal penis morphology (HP:0000036): Abnormality of the male external sex organ. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Abnormality of the uterus (HP:0000130): An abnormality of the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- High palate (HP:0000218): 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). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Furrowed tongue (HP:0000221): Accentuation of the grooves on the dorsal surface of the tongue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Autism (HP:0000717): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Abnormality of the thyroid gland (HP:0000820): An abnormality of the thyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:201)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:201)
- Melanocytic nevus (HP:0000995): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Cavernous hemangioma (HP:0001048): The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Hypopigmented skin patches (HP:0001053). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Brachydactyly (HP:0001156): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Seizure (HP:0001250): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Global developmental delay (HP:0001263): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Abnormal cerebellum morphology (HP:0001317): Any structural abnormality of the cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Increased intracranial pressure (HP:0002516): An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Neoplasm (HP:0002664): 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). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Meningioma (HP:0002858): The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Melanoma (HP:0002861): 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). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:201)
- Short stature (HP:0004322): 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). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Hamartomatous polyposis (HP:0004390): Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Cellular immunodeficiency (HP:0005374): An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Renal cell carcinoma (HP:0005584): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Generalized hyperkeratosis (HP:0005595). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:201)
- Follicular thyroid carcinoma (HP:0006731): The presence of an follicular adenocarcinoma of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Multiple cafe-au-lait spots (HP:0007565): The presence of six or more cafe-au-lait spots. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Neoplasm of the skin (HP:0008069): A tumor (abnormal growth of tissue) of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:201)
- Enlarged polycystic ovaries (HP:0008675). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Adenoma sebaceum (HP:0009720): The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Fibroma (HP:0010614): Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Lipoma (HP:0012032): Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Bone cyst (HP:0012062): A fluid filled cavity that develops with a bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Endometrial carcinoma (HP:0012114): A carcinoma of the endometrium, the mucous lining of the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Macule (HP:0012733): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:201)
- Papilloma (HP:0012740): A tumor of the skin or mucous membrane with finger-like projections. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:201)
- Neoplasm of the central nervous system (HP:0100006): A neoplasm of the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Neoplasm of the thyroid gland (HP:0100031): A tumor (abnormal growth of tissue) of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:201)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Mucosal telangiectasiae (HP:0100579): Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:201)
- Conjunctival hamartoma (HP:0100780): A hamartoma (disordered proliferation of mature tissues) of the conjunctiva. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:201)
- Papule (HP:0200034): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:201)
- Colorectal polyposis (HP:0200063): Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:201)
These phenotypes are associated with the disease Cowden syndrome (ORPHA:201).