| HP:0000002 | Abnormality of body height | |
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| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000013 | Hypoplastic uterus | |
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| HP:0000023 | Inguinal hernia | |
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| HP:0000026 | Hypogonadism, male | "Lack of function of the males gonads (i.e., testes)." [HPO:curators] |
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| HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000040 | Enlarged penis | |
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| HP:0000041 | Chordee | "A condition in which the head of the penis curves downward." [HPO:curators] |
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| HP:0000044 | Hypogonadotrophic hypogonadism | "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)." [HPO:curators] |
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| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000054 | Micropenis | |
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| HP:0000104 | Renal agenesis | |
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| HP:0000125 | Pelvic kidney | "A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis." [HPO:curators] |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000134 | Hypogonadism, female | "Lack of function of the female gonads (i.e. ovaries)." [HPO:curators] |
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| HP:0000144 | Decreased fertility | |
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| HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000204 | Cleft lip | "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000238 | Hydrocephalus | |
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| HP:0000243 | Trigonocephaly | |
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| HP:0000244 | Brachyturricephaly | |
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| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000336 | Prominent supraorbital ridges | "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators] |
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| HP:0000343 | Long philtrum | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
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| HP:0000365 | Hearing loss | |
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| HP:0000368 | Low-set, posteriorly rotated ears | |
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| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000384 | Preauricular skin tag | "A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear)." [HPO:curators] |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000411 | Protruding ears | |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000445 | Broad nose | |
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| HP:0000452 | Choanal stenosis | "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:curators] |
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| HP:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] |
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| HP:0000458 | Anosmia | "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [HPO:curators] |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000470 | Short neck | |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000488 | Retinopathy | |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000499 | Abnormality of the eyelashes | "An abnormality of the `eyelashes` (FMA:53669)." [HPO:probinson] |
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| HP:0000505 | Impaired vision | |
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| HP:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000520 | Proptosis | |
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| HP:0000551 | Abnormal color vision | |
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| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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| HP:0000586 | Shallow orbits | |
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| HP:0000593 | Abnormality of the anterior chamber | "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris." [HPO:curators] |
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| HP:0000601 | Hypotelorism | |
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| HP:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
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| HP:0000614 | Abnormality of the lacrimal duct | |
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| HP:0000625 | Eyelid, cleft | "A short discontinuity of the margin of the lower or upper eyelid." [pmid:19125427] |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000647 | Sclerocornea | |
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| HP:0000664 | Synophrys | "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] |
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| HP:0000677 | Oligodontia | "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators] |
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| HP:0000678 | Dental overcrowding | |
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| HP:0000691 | Microdontia | |
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| HP:0000706 | Unerupted teeth | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000717 | Autism | |
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| HP:0000739 | Anxiety | |
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| HP:0000750 | Impaired language development | |
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| HP:0000771 | Gynecomastia | |
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| HP:0000786 | Primary amenorrhea | |
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| HP:0000802 | Impotence | |
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| HP:0000823 | Delayed puberty | |
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| HP:0000830 | Hypopituitarism | "A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the eight pituitary hormones." [HPO:curators] |
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| HP:0000869 | Secondary amenorrhea | |
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| HP:0000873 | Diabetes insipidus | "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators] |
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| HP:0000882 | Hypoplastic scapulae | |
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| HP:0000889 | Abnormality of the clavicles | "Any abnormality of the clavicles (collar bones)." [HPO:curators] |
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| HP:0000926 | Platyspondyly | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0000943 | Dysostosis multiplex | |
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| HP:0000958 | Dry skin | |
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| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| HP:0000991 | Xanthomatosis | "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." [HPO:curators] |
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| HP:0001012 | Lipomas | "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [HPO:curators] |
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| HP:0001031 | Subcutaneous lipomas | |
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| HP:0001052 | Nevus flammeus | "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken] |
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| HP:0001140 | Epibulbar dermoids | "An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001169 | Broad hands | |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001230 | Broad metacarpals | |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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| HP:0001260 | Dysarthria | "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." [HPO:curators] |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001269 | Hemiparesis | "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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| HP:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001305 | Dandy-Walker malformation | "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the body s ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:curators] |
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| HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001331 | Absent septum pellucidum | "Absence of the septum pellucidum." [HPO:curators] |
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| HP:0001335 | Mirror hand movements (bimanual synkinesia) | |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001363 | Craniosynostosis | "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0001442 | Somatic mosaicism | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| HP:0001531 | Failure to thrive in infancy | |
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| HP:0001539 | Omphalocele | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001608 | Abnormality of the voice | "Any abnormality of the voice." [HPO:curators] |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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| HP:0001650 | Aortic stenosis | "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators] |
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| HP:0001680 | Coarctation of aorta | "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators] |
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| HP:0001682 | Subaortic stenosis | "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." [HPO:curators] |
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| HP:0001704 | Tricuspid valve prolapse | |
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| HP:0001739 | Abnormality of the nasopharynx | |
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| HP:0001742 | Nasal obstruction leading to mouth breathing | |
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| HP:0001761 | Pes cavus | |
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| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0001769 | Broad feet | "Increased width of the feet." [HPO:curators] |
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| HP:0001770 | Toe syndactyly | "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001783 | Broad metatarsals | |
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| HP:0001800 | Hypoplastic toenails | "Underdeveloped toenails." [HPO:curators] |
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| HP:0001959 | Polydipsia | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002019 | Constipation | |
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| HP:0002032 | Esophageal atresia | "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators] |
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| HP:0002063 | Rigidity | |
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| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002084 | Encephalocele | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002231 | Sparse body hair | "Sparseness of the body hair." [HPO:probinson] |
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| HP:0002245 | Meckel diverticulum | |
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| HP:0002300 | Mutism | |
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| HP:0002301 | Hemiplegia | "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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| HP:0002308 | Arnold-Chiari malformation | "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators] |
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| HP:0002357 | Dysphasia | |
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| HP:0002360 | Sleep disturbances | "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
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| HP:0002381 | Aphasia | |
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| HP:0002410 | Aqueductal stenosis | "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." [HPO:curators] |
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| HP:0002445 | Tetraplegia | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002539 | Cortical dysplasia | |
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| HP:0002575 | Tracheoesophageal fistula | "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002659 | Increased susceptibility to fractures | "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] |
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| HP:0002676 | Cloverleaf skull | "A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus." [HPO:curators] |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002761 | Generalized joint laxity | "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators] |
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| HP:0002763 | Abnormality of cartilage | "Any abnormality of cartilage." [HPO:curators] |
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| HP:0002780 | Bronchomalacia | |
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| HP:0002797 | Osteolysis | |
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| HP:0003041 | Radiohumeral synostosis | "An abnormal osseous union (fusion) between the radius and the humerus." [HPO:curators] |
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| HP:0003070 | Elbow ankylosis | |
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| HP:0003164 | Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency | |
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| HP:0003187 | Breast hypoplasia | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003228 | Hypernatremia | |
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| HP:0003312 | Abnormal form of the vertebral bodies | |
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| HP:0003470 | Paralysis | "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators] |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0003552 | Muscle stiffness | |
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| HP:0003745 | Sporadic | |
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| HP:0003782 | Eunuchoid habitus | |
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| HP:0003795 | Short middle phalanges (feet) | |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0004279 | Hypoplastic hand | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004349 | Reduced bone mineral density | "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] |
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| HP:0004374 | Hemiplegia/hemiparesis | "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] |
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| HP:0004409 | Hyposmia | "A decreased sensitivity to odorants (that is, a decreased ability to perceive odors)." [HPO:curators] |
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| HP:0004440 | Coronal craniosynostosis | |
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| HP:0004493 | Craniofacial hyperostosis | "Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). This term is used for excessive growth of the craniofacial bones." [HPO:curators] |
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| HP:0004691 | 2-3 toe syndactyly | "`Syndactyly` (HP:0001159) with fusion of toes two and three." [HPO:sdoelken] |
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| HP:0004969 | peripheral pulmonary artery stenosis | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005306 | Capillary hemangiomas | "The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces." [HPO:curators] |
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| HP:0005347 | Cartilaginous trachea | |
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| HP:0005466 | Hypoplastic frontal bones | |
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| HP:0005864 | Pseudoarthrosis | |
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| HP:0006009 | Widened phalanges | |
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| HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0006110 | Disproportionately short middle phalanges | |
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| HP:0006283 | Multiple unerupted teeth | |
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| HP:0006487 | Bowing of the long bones | |
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| HP:0006501 | Aplasia/Hypoplasia of the radius | "A small/hypoplastic or absent/aplastic radius." [HPO:curators] |
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| HP:0006610 | Wide intermamillary distance | |
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| HP:0006870 | Lobar holoprosencephaly | "A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally." [gc:hpe] |
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| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
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| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | "Absence or underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0007546 | Linear or reticular hyperpigmentation | |
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| HP:0007676 | Hypoplasia of the iris | |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0008064 | Ichthyosiform abnormality of the skin | |
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| HP:0008080 | Hallux varus | "Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially." [HPO:curators] |
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| HP:0008122 | Tarsonavicular and calcaneonavicular fusion | |
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| HP:0008187 | Absence of secondary sex characteristics | |
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| HP:0008197 | Absence of pubertal development | |
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| HP:0008213 | Pituitary gonadotropin deficiency | |
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| HP:0008230 | Decreased testosterone in males | |
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| HP:0008439 | Lumbar hemivertebrae | |
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| HP:0008527 | Congenital sensorineural hearing loss | |
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| HP:0008724 | Hypoplastic ovary | |
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| HP:0008734 | Decreased testicular size | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0008905 | Rhizomelic short stature | |
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| HP:0009125 | Lipodystrophy | "Degenerative changes of the fat tissue." [HPO:curators] |
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| HP:0009601 | Aplasia/Hypoplasia of the thumb | "Hypoplastic/small or absent thumb." [HPO:curators] |
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| HP:0009800 | maternal diabetes | "Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes." [HPO:curators] |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0009804 | Reduced number of teeth | |
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| HP:0009826 | Hypoplasia involving bones of the extremities | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010055 | Broad hallux | |
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| HP:0010059 | Broad phalanges of the hallux | |
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| HP:0010109 | Hypoplastic/small hallux | |
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| HP:0010529 | Echolalia | "The tendency to repeat vocalizations made by another person." [HPO:curators] |
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| HP:0010550 | Paraplegia | "Severe or complete weakness of both lower extremities with sparing of the upper extremities." [HPO:curators] |
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| HP:0010622 | Neoplasia of the skeletal system | "`Neoplasia` (HP:0002664) affecting the `skeleton` (FMA:23875)." [HPO:probinson] |
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| HP:0010627 | Hypoplasia of the pituitary gland | "Underdevelopment of the pituitary gland." [HPO:curators] |
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| HP:0010743 | Hypoplasia of the metatarsal bones | |
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| HP:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
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| HP:0011318 | Bicoronal synostosis | "Synostosis affecting the right and the left coronal suture." [DDD:awilkie] |
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| HP:0011611 | Interrupted aortic arch | "Non-continuity of the aortic arch with an atretic point or absent segment." [DDD:dbrown] |
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| HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
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| HP:0011849 | Abnormal bone ossification | "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." [HPO:probinson] |
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| HP:0011961 | Non-obstructive azoospermia | "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278] |
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| HP:0012032 | Lipoma | "Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous." [MPATH:417] |
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| HP:0012062 | Bone cyst | "A fluid filled cavity that develops with a bone." [HPO:probinson] |
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| HP:0012157 | Subcortical cerebral atrophy | "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter." [HPO:probinson, pmid:20813998] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
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| HP:0030016 | Dyspareunia | "Recurrent or persistent genital pain associated with sexual intercourse." [] |
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| HP:0030019 | Increased female libido | "Elevated sexual desire in female" [] |
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| HP:0030084 | Clinodactyly | "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0040188 | Osteochondrosis | "Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification." [] |
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| HP:0100251 | Lipomas of the central neryous system | |
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| HP:0100257 | Ectrodactyly | "A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet." [HPO:sdoelken] |
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| HP:0100335 | Non-midline cleft lip | |
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| HP:0100639 | Erectile abnormalities | |
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| HP:0100702 | Arachnoid cyst | "Arachnoid cysts are filled with cerebrospinal fluid encased by arachnoidal cells." [HPO:sdoelken] |
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| HP:0100761 | Visceral angiomatosis | |
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| HP:0100842 | Septo-optic dysplasia | "Underdevelopment of the optic nerve and absence of the septum pellucidum." [HPO:sdoelken] |
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