The Human Phenotype Ontology table provides information on the disease phenotypes associated with a particular gene.
Gene: ZDHHC9
Cytoband position: Xq26.1
OMIM: 300646
RVIS score: -0.12
RVIS percentage: 44.54
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Atypical behavior | HP:0000708 | HP:0000715,HP:0002368,HP:0002456 | Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. |
| 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 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. |
| Long fingers | HP:0100807 | HP:0006010 | The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. |
| Schizophrenia | HP:0100753 | None | A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences. |
| Interphalangeal joint contracture of finger | HP:0001220 | None | Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. |
| 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. |
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Attention deficit hyperactivity disorder | HP:0007018 | HP:0001576,HP:0001577,HP:0006973 | Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. |
| Cognitive impairment | HP:0100543 | HP:0002128,HP:0002129,HP:0002302,HP:0002337,HP:0002441,HP:0006972,HP:0006998,HP:0007211 | Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. |
| Abnormality of the nervous system | HP:0000707 | HP:0001333,HP:0006987 | An abnormality of the nervous system. |
| Seizure | HP:0001250 | HP:0001275,HP:0001303,HP:0002125,HP:0002182,HP:0002279,HP:0002306,HP:0002348,HP:0002391,HP:0002417,HP:0002430,HP:0002431,HP:0002432,HP:0002434,HP:0002437,HP:0002466,HP:0002479,HP:0002794,HP:0006997,HP:0010520 | 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. |
| 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. |
| 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. |
| Abnormal brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Abnormality of upper limb joint | HP:0009810 | None | None |
| Abnormality of the nose | HP:0000366 | None | An abnormality of the nose. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Abnormality of the philtrum | HP:0000288 | HP:0011216 | An abnormality of the philtrum. |
| 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. |
| 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. |
| Abnormal external genitalia | HP:0000811 | None | None |
| Abnormal muscle tone | HP:0003808 | None | None |
| 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. |
| Thin corpus callosum | HP:0033725 | None | An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). |
| Flexion contracture of finger | HP:0012785 | None | Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. |
| 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 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. |
| Pectus carinatum | HP:0000768 | HP:0006639 | A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. |
| 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. |
| 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). |
| Hyperactivity | HP:0000752 | HP:0008764 | Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. |
| Abnormal skeletal muscle morphology | HP:0011805 | HP:0003735 | A structural abnormality of a skeletal muscle. |
| Hallucinations | HP:0000738 | None | Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. |
| Short attention span | HP:0000736 | None | Reduced attention span characterized by distractibility and impulsivity. |
| Disinhibition | HP:0000734 | None | Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. |
| Abnormal reproductive system morphology | HP:0012243 | None | A structural or developmental anomaly of any of the tissues involved in the genital system. |
| Psychosis | HP:0000709 | None | A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. |
| 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. |
| Abnormal cardiovascular system morphology | HP:0030680 | HP:0001632,HP:0002564,HP:0002565 | Any structural anomaly of the heart and blood vessels. |
| Camptodactyly of finger | HP:0100490 | HP:0005651,HP:0005662,HP:0005713,HP:0005801,HP:0005821,HP:0006195,HP:0006218,HP:0006240,HP:0009698 | The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. |
| 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 crowding | HP:0000678 | None | Changes in alignment of teeth in the dental arch |
| 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. |
| Abnormality of the ear | HP:0000598 | None | An abnormality of the ear. |
| 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. |
| Abnormality of connective tissue | HP:0003549 | None | Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). |
| Tall stature | HP:0000098 | HP:0001527,HP:0003515,HP:0003516 | A height above that which is expected according to age and gender norms. |
| Disproportionate tall stature | HP:0001519 | HP:0003511,HP:0008864 | A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. |
| Joint contracture of the hand | HP:0009473 | HP:0001160,HP:0001237,HP:0004094,HP:0005814,HP:0006096,HP:0006173,HP:0006215,HP:0006238,HP:0006255,HP:0009409,HP:0009472,HP:0010563 | Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. |
| Prominent nasal bridge | HP:0000426 | HP:0000432,HP:0000442,HP:0004498,HP:0005287 | Anterior positioning of the nasal root in comparison to the usual positioning for age. |
| 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). |
| 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. |
| High forehead | HP:0000348 | HP:0000342 | An abnormally increased height of the forehead. |
| 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. |
| Camptodactyly | HP:0012385 | None | 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. |
| 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. |
| Abnormal location of ears | HP:0000357 | None | Abnormal location of the ear. |
| Abnormality of the outer ear | HP:0000356 | HP:0001752 | An abnormality of the external ear. |
| Short philtrum | HP:0000322 | HP:0200090 | Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. |
| Abnormal maxilla morphology | HP:0000326 | None | An abnormality of the Maxilla (upper jaw bone). |
| Hypoplasia of the maxilla | HP:0000327 | HP:0004644 | Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. |
| Narrow face | HP:0000275 | HP:0000318 | Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). |
| Abnormal finger phalanx morphology | HP:0005918 | HP:0005786,HP:0006259 | Abnormalities affecting the phalanx of finger. |
| Abnormal phalangeal joint morphology of the hand | HP:0006261 | HP:0004266 | None |
| Abnormality of the forehead | HP:0000290 | None | An anomaly of the forehead. |
| Small face | HP:0000274 | None | A face that is short and narrow. |
| 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. |
| 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 cardiovascular system | HP:0001626 | HP:0003116 | Any abnormality of the cardiovascular system. |
| Limb joint contracture | HP:0003121 | HP:0005631,HP:0005839 | A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. |
| 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. |
| Joint contracture of the 5th finger | HP:0009183 | HP:0001184 | Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. |
| Abnormal upper lip morphology | HP:0000177 | None | An abnormality of the upper lip. |
| 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. |
| 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. |
| 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. |
| 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. |
| 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. |
| Abnormal heart morphology | HP:0001627 | HP:3000001 | Any structural anomaly of the heart. |
| Flexion contracture of digit | HP:0030044 | None | A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. |
| Abnormal finger morphology | HP:0001167 | HP:0003035 | An anomaly of a finger. |
| Abnormality of the testis size | HP:0045058 | None | An anomaly of the size of the testicle (the male gonad). |
| Abnormality of the genital system | HP:0000078 | None | An abnormality of the genital system. |
| Macroorchidism | HP:0000053 | None | The presence of abnormally large testes. |
| Abnormal testis morphology | HP:0000035 | None | An anomaly of the testicle (the male gonad). |
| Abnormal male external genitalia morphology | HP:0000032 | None | Any structural abnormality of male external genitalia. |
| 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. |
| All | HP:0000001 | None | None |
| Abnormal psychotic pattern | HP:5200430 | None | Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. |
| Abnormal experience of reality | HP:5200423 | None | Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences. |
| 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 cerebral subcortex morphology | HP:0010993 | None | An abnormality of the cerebral subcortex. |
| 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. |
| Recurrent maladaptive behavior | HP:5200241 | None | A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions. |
| Abnormal oral morphology | HP:0031816 | None | Any structural anomaly of the mouth, which is also known as the oral cavity. |
| Abnormal forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Abnormal ear morphology | HP:0031703 | None | Any structural anomaly of the ear. |
| Abnormal foot morphology | HP:0001760 | HP:0010216,HP:0010611 | An abnormality of the skeleton of foot. |
| Pes planus | HP:0001763 | None | A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. |
| Abnormal cardiac septum morphology | HP:0001671 | HP:0001690,HP:0004760 | An anomaly of the intra-atrial or intraventricular septum. |
| Reduced attention regulation | HP:5200044 | None | An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention. |
| Upper-limb joint contracture | HP:0100360 | None | A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. |
| Finger joint contracture | HP:0034681 | None | Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. |
| Abnormal curvature of the vertebral column | HP:0010674 | None | The presence of an abnormal curvature of the vertebral column. |
| Abnormal digit morphology | HP:0011297 | None | A morphological abnormality of a digit, i.e., of a finger or toe. |
| 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. |
| Hypernasal speech | HP:0001611 | HP:0001614 | A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. |
| Abnormality of the voice | HP:0001608 | None | None |
| Abnormal tendon morphology | HP:0100261 | None | An abnormality of the structure or form of the tendons, also often called sinews. |
| Growth abnormality | HP:0001507 | HP:0008904 | None |
| Arachnodactyly | HP:0001166 | HP:0001505 | Abnormally long and slender fingers (\"spider fingers\"). |
| Abnormality of the male genitalia | HP:0010461 | None | Abnormality of the male genital system. |
| 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 |
| X-linked inheritance | HP:0001417 | HP:0001418 | A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. |
| Joint contracture | HP:0034392 | None | A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. |
| Aplasia/Hypoplasia of the cerebrum | HP:0007364 | 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. |
| 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. |
| Flexion contracture | HP:0001371 | HP:0001372,HP:0001381,HP:0005053,HP:0005189,HP:0005660 | A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. |
| Aplasia/Hypoplasia of the corpus callosum | HP:0007370 | HP:0007003,HP:0007060,HP:0007061,HP:0007137 | Absence or underdevelopment of the corpus callosum. |
| 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. |
| Abnormal corpus callosum morphology | HP:0001273 | HP:0007323 | Abnormality of the corpus callosum. |
| Aplasia/Hypoplasia involving the central nervous system | HP:0002977 | HP:0001323 | Absence or underdevelopment of tissue in the central nervous system. |
| Morphological central nervous system abnormality | HP:0002011 | HP:0002405,HP:0002413,HP:0002481,HP:0007319 | A structural abnormality of the central nervous system. |
| Slender finger | HP:0001238 | None | Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. |
| Abnormal 5th finger morphology | HP:0004207 | None | An abnormality affecting one or both 5th fingers. |
| Abnormality of the hand | HP:0001155 | HP:0005858 | An abnormality affecting one or both hands. |
| Abnormality of limb bone | HP:0040068 | None | None |
| Abnormality of limbs | HP:0040064 | None | None |
| Abnormal atrial septum morphology | HP:0011994 | None | An abnormality of the interatrial septum. |
| 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 appendicular skeleton morphology | HP:0011844 | None | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| Abnormal musculoskeletal physiology | HP:0011843 | None | An abnormality of the function of the skeletal system. |
| 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. |
| Abnormality of the lower limb | HP:0002814 | None | An abnormality of the leg. |
| Abnormal limb bone morphology | HP:0002813 | None | Any abnormality of bones of the arms or legs. |
| Abnormality of joint mobility | HP:0011729 | None | An abnormality in the range and ease of motion of joints across their normal range. |
| Abnormal cerebral white matter morphology | HP:0002500 | HP:0200100 | An abnormality of the cerebral white matter. |
| 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. |
| Abnormality of mental function | HP:0011446 | None | Cognitive, psychiatric, or memory anomaly. |
| Abnormal cardiac atrium morphology | HP:0005120 | None | Any structural abnormality of a cardiac atrium. |
| 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. |
| Abnormal nasal morphology | HP:0005105 | None | None |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |