Abnormality of the vitamin B12 metabolism


Abnormal circulating sulphur amino acid concentration

Abnormality of sulfur-containing amino acids

Abnormal circulating sulfur amino acid concentration

Any deviation from the normal concentration of a sulfur amino acid in the blood circulation. [HPO:gcarletti]


Abnormality of histiocytes
Abnormality of macrophages

An abnormality of macrophages. [HPO:probinson]


Abnormality of the endomycoardium
Abnormality of the endocardium

An abnormality of the endocardium. [HPO:probinson]


Abnormal skeletal muscle fibre morphology

Abnormal skeletal muscle fiber morphology

Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. [HPO:probinson, PMID:22938878]


Abnormality of external features of the abdomen

The presence of any abnormality affecting the abdominal wall. [HPO:probinson]


Synostosis of second metacarpal-trapezoid

Fusion of the second metacarpal-trapezoid. [HPO:probinson]


Delayed maturation of the trapezoid bone

Delayed ossification of the trapezoid bone

Formation of bone tissue of trapezoid is less than expected for age. [HPO:probinson]


Formation of bone tissue of trapezium is less than expected for age. [HPO:probinson]


Formation of bone tissue of scaphoid is less than expected for age. [HPO:sdoelken]


Increased size of carpal bones. [HPO:probinson]


Curved terminal phalanx of the little finger

Curved appearance of the distal phalanx of the 5th (little) finger. [HPO:curators]


Abnormality of the outermost little finger bone

Abnormality of the distal phalanx of the little finger

Abnormality of the outermost pinkie finger bone

Abnormality of the terminal phalanx of the little finger

Abnormality of the outermost pinky finger bone

Abnormality of the distal phalanx of the 5th finger

Abnormality of the distal phalanx of the 5th (little) finger. [HPO:curators]


Ivory epiphysis of the terminal phalanx of the little finger

Increased bone density of end part of the outermost pinky finger bone

Increased bone density of end part of the outermost pinkie finger bone

Increased bone density of end part of the outermost little finger bone

Ivory epiphysis of the distal phalanx of the little finger

Ivory epiphysis of the distal phalanx of the 5th finger

Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]


Cone-shaped end part of the outermost pinky finger bone

Cone-shaped end part of the outermost pinkie finger bone

Cone-shaped end part of the outermost little finger bone

Cone-shaped epiphysis of the distal phalanx of the little finger

Cone-shaped epiphysis of the distal phalanx of the 5th finger

A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]


Fifth finger symphalangism
Symphalagism of the little finger
Fused pinkie finger bones
Fused little finger bones
Fused pinky finger bones

Fusion of two or more bones of the 5th finger. [HPO:curators]


Lytic defects of the phalanges of the little finger

Osteolytic defects of the phalanges of the 5th finger

Dissolution or degeneration of bone tissue of the phalanges of the 5th finger. [HPO:curators]


Abnormality of the 5th finger
Abnormality of the little finger
Abnormality of the pinkie finger
Abnormality of the pinky finger

An abnormality affecting one or both 5th fingers. [HPO:sdoelken]


Fused ring finger bones
Symphalangism of the ring finger

Fusion of two or more bones of the 4th finger. [HPO:curators]


Abnormality of the ring finger
Abnormality of the 4th finger


Short outermost bone of the middle finger

Short distal phalanx of the third finger

Hypoplastic/small distal phalanx of the 3rd finger

Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger. [HPO:sdoelken]


Abnormality of the 3rd finger
Abnormality of the middle finger

An anomaly of the third finger. [HPO:probinson]


Abnormality of the 2nd finger
Abnormality of index finger

An anomaly of the second finger, also known as the index finger. [HPO:probinson]


Increased bone density in hand bones
Increased bone density in hand bone
Hand bone sclerosis
Generalised sclerosis of hand bones
Generalized sclerosis of hand bones

Osteosclerosis affecting one or more bones of the hand. [HPO:probinson]


Disharmonic maturation of the hand bones

Dysharmonic ossification of the hand bones

Dysharmonic maturation of the hand bones

Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand. [HPO:probinson]


Delay maturation/delayed ossification of the hand

Ossification of hand bones is less advanced than would be expected according to age-adjusted norms. [HPO:probinson]


Increase in width (breadth) of the ulnar metaphysis. [HPO:probinson]


Irregularity of the normally smooth surface of the metaphysis of the ulna. [HPO:probinson]


Abnormality of the epiphyseal plate of the ulna


Increase in width of the diaphysis of radius. [HPO:probinson]


Increase in width (breadth) of the radial metaphysis. [HPO:probinson]


Irregularity of the normally smooth surface of the metaphysis of the radius. [HPO:probinson]


Abnormal increase in width of the epiphyseal growth plate of the radius. [HPO:probinson]


Osteosclerosis (increased density related to increased bone mass) of the ulna. [HPO:probinson]


Increased width of the radius. [HPO:probinson]


Abnormally wide bone of the skeleton of forearm. [HPO:probinson]


Aplasia of the forearm bones
Absent forearm bone

Absence of one or more forearm bones associated with congenital failure of development. [HPO:probinson]


Vertical linear mixed lucent and sclerotic pattern of metaphyses

Sclerotic foci of metaphyses of the elbow


Irregular wide portion of elbow bone
Irregular metaphyses of elbow

Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow). [HPO:probinson]


Broad humeral diaphysis
Wide shaft of long bone in upper arm
Broad shaft of long bone in upper arm

Increased width of the humeral diaphysis. [HPO:probinson]


Irregular wide portion of long bone in upper arm


Enlarged wide portion of long bone of upper arm


Increased width of the humeral epiphyseal growth plate. [HPO:probinson]


Broad epiphyses of the upper limbs
Wide end part of upper limb bones


Wide humeral epiphyses
Wide end part of long bone in upper arm

Increased width of the humeral epiphysis. [HPO:probinson]


Stippled ossification of the humeral epiphyses

The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis. [HPO:probinson]


Delayed maturation/delayed ossification of the humeral epiphyses

A delay in the process of formation and maturation of the humeral epiphysis. [HPO:probinson]


Absent ossification of the humeral epiphyses

Absent maturation of end part of long bone in upper arm

Lack of formation of bone in the epiphysis of the humerus. [HPO:probinson]


Abnormality of end part of the long bone of the upper arm

An anomaly of the humeral epiphysis. [HPO:probinson]


Broad humerus
Wide long bone of upper arm


Increased bone density in long bone of upper arm


Broad shaft of long bone of the upper limbs

Wide shaft of long bone of the upper limbs


Wide/broad metaphyses of the upper limbs

Increased width (breadth) of metaphyses of the arms. [HPO:probinson]


Irregular wide portion of upper limb bones


Flared wide portion of the upper limb bone

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm. [HPO:probinson]


Abnormal shape of end part of upper limb long bones

Abnormality involving the epiphyses of the upper limbs

Epihyseal plate abnormality of the upper limbs

Abnormality of upper limb epiphysis morphology


Short middle bones (feet)
Short middle phalanges of toes

Developmental hypoplasia (shortening) of middle phalanx of toe. [HPO:probinson]


Cytochrome C oxidase-negative muscle fibres

Cytochrome c oxidase deficiency in skeletal muscle

Decreased activity of cytochrome C oxidase in muscle tissue

Decreased skeletal muscle cytochrome c oxidase activity

Cytochrome C oxidase-negative muscle fibers

An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue. [HPO:probinson]


Reduced level of N-acetylglucosaminyltransferase II

An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. [HPO:gcarletti]


Myopathic electromyogram
EMG: myopathic changes
EMG: myopathy

The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. [HPO:curators]


EMG: neurogenic abnormalities
EMG: neurogenic changes
EMG: neurogenic findings

The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). [HPO:probinson]


EMG: decremental response of CMAP to repetitive nerve stimulation

EMG: decremental response of compound muscle action potential to repetitive nerve stimulation

A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. [HPO:probinson]


Increased circulating very-low-density lipoprotein levels

Increased circulating very-low-density lipoprotein cholesterol

Increased VLDL cholesterol concentration

An increase in the amount of very-low-density lipoprotein cholesterol in the blood. [HPO:gcarletti]


Subepidermal blistering with cleavage in the lamina lucida

The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. [HPO:probinson]


Anemia corrected by uridylic acid and cytidylic acid

Anaemia corrected by uridylic acid and cytidylic acid

A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid. [HPO:probinson]


The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia. [HPO:probinson]


An increased concentration of lysine in the urine. [HPO:probinson, PMID:18901181, PMID:20240447]


A functional anomaly of mitochondria. [ORCID:0000-0001-5208-3432]


Abnormality of the hip bone
Abnormality of the hips

An abnormality of the hip bone. [HPO:probinson]


Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. [HPO:probinson]


Chromosomal breakage induced by diepoxybutane

Chromosomal breakage induced by mitomycin C

Chromosomal breakage induced by crosslinking agents

Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. [HPO:sdoelken]


Abnormality of the pubis
Abnormality of the pubic bone
Abnormality of the pubic bones

An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone. [HPO:probinson]


Abnormality of the hipbone socket
Acetabular abnormality
Abnormality of the acetabulum

An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. [HPO:probinson]


Increased circulating ACTH level
Increased plasma ACTH
High blood corticotropin levels

An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. [HPO:probinson]


Abnormality of cortical bone
Abnormal compact bone morphology

An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. [HPO:sdoelken]


An abnormality of the humerus (i.e., upper arm bone). [HPO:curators]


Abnormal kneecap
Abnormality of the patella
Patellar abnormality

Abnormality of the patella (knee cap). [HPO:probinson]


Abnormality of the wrist
Abnormalities of the wrists

Abnormality of the wrist, the structure connecting the hand and the forearm. [HPO:probinson]


Abnormality originating in one or more muscles, i.e., of the set of muscles of body. [HPO:probinson]


Abnormality of the ilium
Iliac abnormalities

An abnormality of the ilium, the largest and uppermost bone of the pelvis. [HPO:probinson]


Decreased specific anti-polysaccharide antibody level

Specific anti-polysaccharide antibody deficiency

Depressed antibody response to polysaccharide antigens

The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. [HPO:probinson]

Low specific anti-polysaccharide antibody titer


A structural abnormality of B cells. [HPO:probinson, PMID:18725575]


Lytic cystic lesions in appendicular bones

Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping. [HPO:probinson, PMID:11930062]


Abnormality of the femora
Abnormality of the thighbone

Any anomaly of the structure of the femur. [HPO:probinson]


Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection. [HPO:probinson]


An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections. [HPO:probinson]


Abnormality of the immune system
Immunological abnormality

An abnormality of the immune system. [HPO:probinson]


Abnormality of the sella turcica
Anomaly of the sella turcica

Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. [HPO:probinson]


Abnormality of the midbrain
Abnormal shape of midbrain
Abnormality of midbrain morphology
Abnormality of the mesencephalon

An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. [HPO:probinson]


Increased width of the superior cerebellar peduncle. [HPO:probinson]


The presence of complexes of repetitive spikes and waves in EEG. [HPO:jalbers]


Delay in central nervous system myelination

Delayed myelination in the central nervous system. [HPO:probinson]


Generalised epileptic myoclonus
Generalised myoclonic seizures
Generalized myoclonic seizure
Generalised myoclonic seizure
Myoclonus seizures
Generalized epileptic myoclonus

A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. [HPO:jalbers, PMID:28276060, PMID:28276064]


Abnormality of the lungs
Unusal lung shape
Abnormally shaped lung
Abnormality of lung structure

Any structural anomaly of the lung. [HPO:probinson]


Morphological abnormality of the pyramidal tract

Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. [HPO:curators]


Cerebral lesion
Abnormality of the telencephalon
Abnormality of the cerebrum

Any structural abnormality of the telencephalon, which is also known as the cerebrum. [HPO:probinson]


Malformation of the area between the eyebrows

Abnormality of the area between the eyebrows

Deformity of the area between the eyebrows

An abnormality of the glabella. [HPO:probinson]


Gastrointestinal tract defects
Abnormality of the abdominal organs

An abnormality of the viscera of the abdomen. [HPO:probinson]


Morphological abnormality of the central nervous system

Abnormality of the central nervous system

Morphological central nervous system abnormality

A structural abnormality of the central nervous system. [HPO:probinson]


Cd43 defectively expressed on surface of blood cells

Reduced lymphocyte surface expression of sialophorin

Reduced lymphocyte surface expression of CD43

A reduction in the expression of CD43 on the cell surface of lymphocytes. [HPO:probinson]


Reduced level of platelet glycoprotein IIb/IIIa complex

Decreased platelet glycoprotein IIb-IIIa

Decreased cell membrane concentration of glycoprotein IIb-IIIa. [DDD:ouwehand]


Metabolism abnormality
Laboratory abnormality


Underdevelopment (hypoplasia) of the second toe. [HPO:probinson]


Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). [HPO:probinson]


Hypoplastic distal phalanges of feet
Short outermost bone of toe

Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe. [PMID:19125433]


Bifid terminal phalanx of toe
Notched outermost bones of toes
Bifid distal phalanges of toes


Abnormalities of the hallux
Abnormality of the big toe

This term applies for all abnormalities of the big toe, also called hallux. [HPO:probinson]


Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. [HPO:probinson]


High-tone sensorineural hearing impairment

High frequency sensorineural hearing impairment

High-frequency sensorineural hearing impairment

A form of sensorineural hearing impairment that affects primarily the higher frequencies. [HPO:probinson]


Abnormality of the voice
Voice abnormality


Laryngeal anomalies
Laryngeal abnormalities

An abnormality of the larynx. [HPO:probinson]


Abnormality of the shoulder girdle musculature


Abnormal calf muscles
Abnormality of calf musculature


An abnormality of the liver. [HPO:probinson]


Neurophysiologic abnormalities
Neurophysiologic abnormality

Abnormal nervous system electrophysiology

An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. [HPO:probinson]


Abnormal fingernails
Abnormality of the fingernails

An abnormality of the fingernails. [HPO:probinson]


An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb. [HPO:curators]


Interphalangeal joint flexion contractures

Interphalangeal joint contracture of finger

Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. [HPO:probinson]


Atypical scarring of skin
Atypical scarring

Atypically scarred skin . [HPO:sdoelken]


Abnormality of shaft of long bone of the limbs

Abnormality involving the diaphyses of the limbs

Anomaly of the limb diaphyses morphology

An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. [HPO:probinson]


Thinning and bulging of posterior skull bones

Thinning and bulging of posterior fossa bones

Thinning and bulging of the posterior fossa bones


Abnormal spine
Abnormal vertebral column
Abnormality of the spine
Abnormality of the vertebral column

Any abnormality of the vertebral column. [HPO:probinson]


Skeletal abnormalities
Skeletal anomalies
Abnormality of the skeletal system

An abnormality of the skeletal system. [HPO:probinson]


Abnormality of the costochondral junction

Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. [HPO:probinson]


Abnormal clavicles
Abnormality of the clavicle
Abnormal collarbone

Any abnormality of the clavicles (collar bones). [HPO:probinson]


Abnormality of the renin-aldosterone axis

An abnormality of the renin-angiotensin system. [HPO:probinson]


Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. [HPO:probinson]


Abnormality of the tricarboxylic cycle
Abnormality of citric acid cycle

An abnormality of the tricarboxylic acid cycle. [HPO:probinson]


Abnormal fat accumulation in the kidneys. [HPO:probinson]


Structural abnormality of the chest wall

Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). [HPO:probinson]


Impaired use of nonverbal behaviours
Impaired use of nonverbal behaviors

Abnormal nonverbal communicative behavior

Any abnormal nonverbal communication, such as reduced use of eye-to-eye gaze, atypical facial expressions, body posture, and gestures. [HPO:probinson]


Restricted behavior
Restricted behaviour
Restrictive behaviour

Behavior characterized by an abnormal limitation to few interests and activities. [HPO:probinson]


Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
Malformation of dental enamel
Malformation of tooth enamel

An abnormality of the dental enamel. [HPO:probinson]


Abnormality of tear production. [HPO:probinson]


Retinal arterial abnormality
Abnormality of retinal arteries


Abnormality of the eyelids
Abnormality of the eyelid

An abnormality of the eyelids. [HPO:probinson]


An abnormality of the Ala of nose. [HPO:probinson, PMID:19152422]


Abnormality of the nasal root
Abnormality of the nasal bridge
Malformation of the bridge of the nose
Abnormality of the bridge of the nose
Deformity of the bridge of the nose
Deformity of the nasal bridge
Malformation of the nasal bridge

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. [HPO:probinson, PMID:19152422]


Prelingual sensorineural deafness
Deafness, sensorineural, prelingual

Prelingual sensorineural hearing impairment

A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. [HPO:probinson]


An abnormality of the External acoustic tube (also known as the auditory canal). [HPO:probinson]


Abnormality of ear lobe
Abnormality of lobulus auriculae
Abnormal lobe of ear
Abnormality of earlobe
Abnormality of auricular lobule
Abnormal earlobe

An abnormality of the lobule of pinna. [HPO:probinson]


Inner ear abnormality
Abnormality of the inner ear

An abnormality of the inner ear. [HPO:probinson]


External ear position defect
Abnormal location of ears

Abnormal location of the ear. [HPO:probinson]


Malformation of the midface
Anomaly of the midface
Abnormality of the midface
Deformity of the midface

An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. [HPO:probinson, PMID:19125436]


Head abnormality
Abnormal head
Abnormality of the head

An abnormality of the head. [HPO:probinson]


The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. [HPO:probinson, PMID:21331089]


Extra oral frenulum
Accessory oral frenum
Supernumerary oral frenulum
Supernumerary oral frenum
Multiple oral frenula
Extra oral frenum

Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. [PMID:19125428]


Palatal anomaly
Abnormality of the palate
Abnormality of the roof of the mouth
Palate abnormality

Any abnormality of the palate, i.e., of roof of the mouth. [HPO:probinson]


Abnormality of the gums
Gingival abnormality

Any abnormality of the gingiva (also known as gums). [HPO:probinson]


Abnormality of head or neck
Head and neck abnormality

An abnormality of head and neck. [HPO:probinson]


Abnormality of the ovaries
Abnormality of the ovary

An abnormality of the ovary. [HPO:probinson]


A phenotypic abnormality. [HPO:probinson]


Abnormality of reproductive system physiology

An abnormal functionality of the genital system. [HPO:probinson]


Urinary tract abnormality
Urinary tract anomalies
Urinary tract abnormalities

An abnormality of the urinary system. [HPO:probinson]


Abnormality of female external genitalia

An abnormality of the female external genitalia. [HPO:probinson]


Ambiguous genitalia in an individual with XY genetic gender. [HPO:probinson]


Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe). [HPO:probinson]


Osteolytic defects of the phalanges of the 3rd toe


Morphologic abnormality of the renal tubules

An abnormality of the renal tubules. [HPO:probinson]


Craniosynostosis of all calvarial sutures. [DDD:awilkie]


Advanced pneumatization of the mastoid process

An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. [HPO:probinson]


Decreased width of nail. [PMID:19125433]


An abnormality of the calf, i.e. of the posterior part of the lower leg. [HPO:probinson]


Increased concentration of uracil in the urine. [HPO:probinson]


Abnormality of the parietal bone of skull

Any abnormality of the parietal bone of the skull. [HPO:curators]


Presence of a lipoma in the region of the sacrum. [HPO:probinson]


Hyperelastic chest skin
Stretchable chest skin


Premature epimetaphyseal fusion in fibula

Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson]


A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated. [DDD:wouwehand]


Abnormal surface-connected open canalicular system

An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction. [HPO:probinson, PMID:1760557]


Cortical thickening of the forearm bones


Increased circulating free triiodothyronine

An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. [HPO:probinson]


Absent/underdeveloped cerebral white matter

Aplasia/Hypoplasia of the cerebral white matter

Absence or underdevelopment of the cerebral white matter. [HPO:probinson]


Functional abnormality of the middle ear

An abnormality of the function of the middle ear. [HPO:probinson]


Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix. [HPO:probinson, PMID:11879535, PMID:7757081, PMID:9468540]


A defect in the repair of damaged DNA that results from variations or mutations in one or more genes encoding proteins involved in DNA repair pathways.


A hamartoma (disordered proliferation of mature tissues) of the conjunctiva. [HPO:probinson]


Increased sensitivity to ionising radiation

Increased sensitivity to ionizing radiation

An abnormally increased sensitivity to the effects of ionizing radiation. [HPO:probinson]


Reduction in diameter of the humerus. [HPO:probinson]


The presence of developmental dysplasia of the vertebral column. [HPO:probinson]


An abnormality of the line of Schwalbe. [HPO:probinson]


Abnormality of nasal hair
Abnormality of nose hair


Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count

A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells. [HPO:probinson]


Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae. [HPO:curators]


Increased length of shankbone
Increased length of shinbone

An abnormal increase in the length of the tibia. [HPO:curators]


Increased length of the distal phalanx of finger. [HPO:probinson]


Absence of palatine bone calcification
Absence of palatine bone mineralization
Absence of palatine bone formation

Lack of formation of the palatine bone. [GOC:MG]


An abnormality of the palpebral conjunctiva. [GOC:MG]


Anomaly of the ethmoid bone
Deformity of the ethmoid bone
Abnormality of ethmoid bone
Malformation of the ethmoid bone

An abnormality of the ethmoid bone [GOC:MG]


Anomaly of the palatine bone
Malformation of the palatine bone
Deformity of the palatine bone
Abnormality of the palatine bone

An abnormality of the palatine bone. [GOC:MG]


Deformity of the lacrimal bone
Malformation of the lacrimal bone


Abnormality of the bone of the forehead
Abnormality of the frontal bone
Malformation of the frontal bone
Anomaly of the frontal bone
Deformity of the frontal bone

An abnormality of the frontal bone. [GOC:MG]


Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe). [eom:5b0e213b31288acd, PMID:19152421]


Vertical excess of chin
Vertical hyperplasia of chin
Increased height of chin
Long chin
Increased height of menton region
Tall chin

Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin. [eom:96d8ca16a3c80216, PMID:19125436]


Failure of development of mandibular incisor


Failure of development of maxillary incisor


Agenesis of deciduous mandibular lateral incisor

Failure of development of primary mandibular lateral incisor

Failure of development of deciduous mandibular lateral incisor

Agenesis of primary mandibular lateral incisor


Failure of development of permanent mandibular lateral incisor

Agenesis of permanent mandibular lateral incisor


Failure of development of mandibular lateral incisor


Failure of development of lateral incisor


Increased serum bile acid concentration during pregnancy


Abnormal liver function tests during pregnancy


Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations. [PMID:27402624]


Missing fifth toenail
Absent fifth toenail


Bracket shaped end part of long bone of hand


Increased muscle tone observed in the arms of the affected person. [ORCID:0000-0002-6670-9157, PMID:21642056]


The presence of premature sister chromatid segregation. [HPO:probinson]


Tumor of fatty tissue
Tumour of fatty tissue

A tumor (abnormal growth of tissue) of adipose tissue. [HPO:sdoelken]


Abnormal size of the opening between the eyelids

An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. [HPO:sdoelken]


Abnormal morphology of the palpebral fissure

Abnormal shape of the opening between the eyelids

The presence of an abnormal shape of the palpebral fissure. [HPO:probinson]


Flaring (widening) of the epiphysis. [HPO:probinson]


A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones. [HPO:probinson]


Increase in size of the hippocampus. [HPO:probinson]


Cerebral lateral ventricular asymmetry
Asymmetric ventricles
Asymmetric lateral ventricles

Abnormal difference in size between the left and right lateral cerebral ventricles. [ORCID:0000-0002-6670-9157, PMID:18253688, PMID:2257506]


Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis. [HPO:probinson]


Any structural abnormality of the medulla of the kidney. [HPO:probinson, PMID:22343825]


Increased bone density in the 1st long bone of foot


Increased bone density in the outermost bone of the big toe

Sclerosis of the distal phalanx of the hallux


Increased bone density in the innermost bone of the big toe

Sclerosis of the proximal phalanx of the hallux


Increased bone density in the outermost bone of the little toe

Increased bone density in the outermost bone of the pinky toe

Increased bone density in the outermost bone of the pinkie toe

Sclerosis of the distal phalanx of the 5th toe


Increased bone density in the outermost bone of the 4th toe

Sclerosis of the distal phalanx of the 4th toe


Increased bone density in the outermost bone of the 3rd toe

Sclerosis of the distal phalanx of the 3rd toe

An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]


Increased bone density in the outermost bone of the 2nd toe

Sclerosis of the distal phalanx of the 2nd toe


Increased bone density in the middle bone of the pinky toe

Increased bone density in the middle bone of the pinkie toe

Increased bone density in the middle bone of the little toe

Sclerosis of the middle phalanx of the 5th toe


Increased bone density in the middle bone of the 4th toe

Sclerosis of the middle phalanx of the 4th toe


Increased bone density in the middle bone of the 3rd toe

Sclerosis of the middle phalanx of the 3rd toe

An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]


Increased bone density in the middle bone of the 2nd toe

Sclerosis of the middle phalanx of the 2nd toe


Increased bone density in the innermost bone of the pinkie toe

Increased bone density in the innermost bone of the little toe

Increased bone density in the innermost bone of the pinky toe

Sclerosis of the proximal phalanx of the 5th toe


Increased bone density in the innermost bone of the 4th toe

Sclerosis of the proximal phalanx of the 4th toe


Increased bone density in the innermost bone of the 3rd toe

Sclerosis of the proximal phalanx of the 3rd toe

An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]


Increased bone density in the innermost bone of the 2nd toe

Sclerosis of the proximal phalanx of the 2nd toe

An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]


Increased bone density in 1st long bone of hand


Increased bone density in the innermost bone of the thumb

Sclerosis of the proximal phalanx of the thumb

An elevation of bone density in the proximal phalanx of the thumb. [HPO:probinson]


Increased bone density in the outermost bone of the thumb

Sclerosis of the distal phalanx of the thumb

An elevation of bone density in the distal phalanx of the thumb. [HPO:probinson]


Increased bone density in innermost pinky finger bone

Increased bone density in innermost little finger bone

Increased bone density in innermost pinkie finger bone

Sclerosis of the proximal phalanx of the 5th finger


Increased bone density in the innermost bone of the ring finger

Sclerosis of the proximal phalanx of the 4th finger


Increased bone density in innermost bone of the middle finger

Sclerosis of the proximal phalanx of the 3rd finger


Increased bone density in the innermost bone of the index finger

Sclerosis of the proximal phalanx of the 2nd finger


Increased bone density in the middle bone of the pinky finger

Increased bone density in the middle bone of the pinkie finger

Increased bone density in the middle bone of the little finger

Sclerosis of the middle phalanx of the 5th finger


Increased bone density in the middle bone of the ring finger

Sclerosis of the middle phalanx of the 4th finger


Increased bone density in the middle bone of the middle finger

Sclerosis of the middle phalanx of the 3rd finger


Increased bone density in the middle bone of the index finger

Sclerosis of the middle phalanx of the 2nd finger


Increased bone density in the outermost pinky finger bone

Increased bone density in the outermost pinkie finger bone

Increased bone density in the outermost little finger bone

Sclerosis of the distal phalanx of the 5th finger


Increased bone density in the outermost bone of the ring finger

Sclerosis of the distal phalanx of the 4th finger


Increased bone density in the outermost bone of the middle finger

Sclerosis of the distal phalanx of the 3rd finger


Increased bone density in the outermost bone of the index finger

Sclerosis of the distal phalanx of the 2nd finger


An abnormality of the xiphoid process of the sternum. [HPO:sdoelken]


Abnormality of eyeball size
Eye size difference

An abnormality in the size of the ocular globe (eyeball). [HPO:sdoelken]


Abnormality of globe position
Abnormality of eyeball position
Abnormality of eyeball location

An abnormality in the placement of the ocular globe (eyeball). [HPO:sdoelken]


Hemiglossal hypertrophy
Hypertrophy of half of the tongue
Increased size of half of the tongue
Large half of tongue

Increased length and width of one half of the tounge. [HPO:sdoelken]


An abnormality of the palm, that is, of the front of the hand. [HPO:probinson]


An abnormally flat sella turcica. [HPO:sdoelken]


Decreased ossification of the vertebral bodies. [HPO:sdoelken]


Hypoplasia of the triceps muscle. [HPO:sdoelken]


Absence of the musculature. [HPO:sdoelken]


Absence or underdevelopment of the eyebrow. [HPO:probinson]


An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. [HPO:probinson]


Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. [HPO:probinson]


Increase in T cell number
Increase in T cell count

An abnormal increase in the total number of T cells detected in the blood. []


A tumor (abnormal growth of tissue) of the nail. [HPO:probinson]


Hyperpigmentation of lip vermillion
Increased pigmentation on the lips
Darkening of skin of the lips


Absent/small colon
Absent/underdeveloped colon

Congenital absence or underdevelopment of the colon. [HPO:probinson]


An abnormality of the region around the nails of the fingers or toes. [HPO:probinson]


Absent/small pancreas
Absent/underdeveloped pancreas

A congenital underdevelopment (aplasia or hypoplasia) of the pancreas. [HPO:sdoelken]


The absence of the normal curvature of the vertebral column. [HPO:sdoelken]


Adhesion of upper and lower lips
Fusion of upper and lower lips
Fused lips

Lack of separation of the upper and lower lips. [HPO:probinson]


A rare birth defect in women where the urethra and vagina both open into a common channel. [HPO:curators]


A structural anomaly of the vessel that contains or conveys lymph fluid. [https://en.wikipedia.org/wiki/Lymphatic_vessel]


An abnormality of the tonsils. [HPO:probinson]


An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. [HPO:probinson]


An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint. [HPO:probinson]


Abnormal eating behavior
Abnormal eating behaviour

Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. []


Abnormality of the hard palate
Abnormality of the secondary palate


Abnormality of the muscular palate
Abnormality of the velum
Abnormality of the soft palate
Abnormality of the velum palatinum

An abnormality of the soft palate. [HPO:probinson]


Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root). [PMID:31468724]


Any structural abnormality of the lumbar vertebral column. [HPO:probinson]


An abnormality of the thoracic vertebral column. [HPO:probinson]


An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells. [HPO:probinson]


An abnormality of astrocytes. [HPO:probinson]


One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers. [HPO:sdoelken]


An abnormality of the glia cell. [HPO:probinson]


An abnormality of the pia mater. [HPO:sdoelken]


Abnormality of the curvature of the cornea


Abnormality of Sharpey fibers
Abnormality of Sharpey fibres
Abnormal Sharpey fibre morphology

An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. [HPO:probinson]


Abnormality of the cerebral blood vessels

An anomaly of the cerebral blood vessels. [PMID:30335330]


Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development. []


A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells. [PMID:26215714]


A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery. [HPO:probinson]


A congenital malformation with a cleft (gap or opening) in the midline of the face. [HPO:probinson]


A seizure during pregnancy. [PMID:25746572]


The presence of a neoplasm of the testis with origin in a Leydig cell. [HPO:probinson]


Death between the age of 16 and 40 years. [HPO:probinson]


The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. [Eurenomics:fschaefer, PMID:20091054, PMID:20367310]


A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy. [HPO:probinson]

High blood phenylalanine level in mother


An abnormality of the retractable fold of skin that covers the tip of the penis. []


Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. [HPO:probinson]


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. [HPO:sdoelken]


Triplication of the spinal cord - extremely rare. [HPO:sdoelken]


Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum. [HPO:sdoelken]


Difference in length or size between the right and left arm. [HPO:probinson]


Uneven or disproportionate growth of one body part compared to another

A growth pattern that displays an abnormal difference between the left and the right side. [HPO:probinson]


Malformation of the supraorbital margins

An anomaly of the supraorbital portion of the frontal bones. [HPO:probinson]


An abnormality of fascia. [HPO:probinson]


The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. [HPO:sdoelken]


An abnormality of phosphate homeostasis or concentration in the body. [HPO:probinson]


An anomaly in the metabolism of a vitamin. [HPO:probinson]


A reduced concentration of vitamin B8. []


A reduced concentration of vitamin B5. []


Abnormality of the vitamin B3 metabolism


A decreased concentration of ammonia in the blood. [HPO:gcarletti]


Joint contractures involving the joints of the feet

Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue. [HPO:sdoelken]


Fusion of the innermost big toe bone with the 1st long bone of foot

Synostosis of the proximal phalanx of the hallux with the 1st metatarsal


Triangular shaped outermost bone of the pinkie toe

Triangular shaped outermost bone of the little toe

Triangular shaped outermost bone of the pinky toe

Triangular shaped distal phalanx of the 5th toe


Fused innermost pinky toe bone with the 5th long bone of foot

Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal


Fused innermost bone of the 4th toe with 4th long bone of foot

Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal


Fused innermost bones of third toe with 3rd long bone of foot

Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal


Fused innermost bone of 2nd toe with the 2nd long bone of foot

Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal


Fused outermost bones of the little toe
Fused outermost bones of the pinky toe
Fused outermost bones of the pinkie toe

Symphalangism affecting the distal phalanx of the 5th toe


Symphalangism affecting the distal phalanx of the 4th toe


Symphalangism affecting the distal phalanx of the 3rd toe


Fused innermost bone of pinky toe
Fused innermost bone of little toe
Fused innermost bone of pinkie toe

Symphalangism affecting the proximal phalanx of the 5th toe


Symphalangism affecting the proximal phalanx of the 4th toe


Symphalangism affecting the proximal phalanx of the 3rd toe


Symphalangism affecting the middle phalanx of the 5th toe


Symphalangism affecting the middle phalanx of the 4th toe


Symphalangism affecting the middle phalanx of the 3rd toe


Uneven increase in bone density in the outermost pinkie toe bone

Uneven increase in bone density in the outermost little toe bone

Uneven increase in bone density in the outermost pinky toe bone

Patchy sclerosis of the distal phalanx of the 5th toe

Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]


Uneven increase in bone density in the outermost bone of the 4th toe

Patchy sclerosis of the distal phalanx of the 4th toe

Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]


Uneven increase in bone density in the outermost bone of the 3rd toe

Patchy sclerosis of the distal phalanx of the 3rd toe


Uneven increase in bone density in the innermost bone of the pinkie toe

Uneven increase in bone density in the innermost bone of the little toe

Uneven increase in bone density in the innermost bone of the pinky toe

Patchy sclerosis of the proximal phalanx of the 5th toe

Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]


Uneven increase in bone density in the innermost bone of the 4th toe

Patchy sclerosis of the proximal phalanx of the 4th toe

Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]


Uneven increase in bone density in the innermost bone of the 3rd toe

Patchy sclerosis of the proximal phalanx of the 3rd toe


Uneven increase in bone density in the middle bone of the pinkie toe

Uneven increase in bone density in the middle bone of the little toe

Uneven increase in bone density in the middle bone of the pinky toe

Patchy sclerosis of the middle phalanx of the 5th toe

Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]


Uneven increase in bone density in middle bone of the 4th toe

Patchy sclerosis of the middle phalanx of the 4th toe

Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]


Uneven increase in bone density in the middle bone of the 3rd toe

Patchy sclerosis of the middle phalanx of the 3rd toe


Osteolytic defects of the outermost bone of the 5th toe

Osteolytic defects of the distal phalanx of the 5th toe


Osteolytic defects of the outermost bone of the 4th toe

Osteolytic defects of the distal phalanx of the 4th toe


Osteolytic defects of the outermost bone of the 3rd toe

Osteolytic defects of the distal phalanx of the 3rd toe


Osteolytic defects of the proximal phalanx of the 5th toe


Osteolytic defects of the proximal phalanx of the 4th toe


Osteolytic defects of the proximal phalanx of the 3rd toe


Osteolytic defects of the middle phalanx of the 5th toe


Osteolytic defects of the middle phalanx of the 4th toe


Osteolytic defects of the middle phalanx of the 3rd toe


Curved outermost bone of the little toe
Curved outermost bone of the pinkie toe
Curved outermost bone of the pinky toe

A deviation from the normal straight form of the distal phalanx of the fifth toe. [HPO:probinson]


A deviation from the normal straight form of the distal phalanx of the fourth toe. [HPO:probinson]


A deviation from the normal straight form of the distal phalanx of the third toe. [HPO:probinson]


Curved innermost pinky toe bone
Curved innermost little toe bone
Curved innermost pinkie toe bone

A deviation from the normal straight form of the proximal phalanx of the fifth toe. [HPO:probinson]


A deviation from the normal straight form of the proximal phalanx of the fourth toe. [HPO:probinson]


A deviation from the normal straight form of the proximal phalanx of the third toe. [HPO:probinson]


Curved middle bone of little toe
Curved middle bone of pinky toe
Curved middle bone of pinkie toe

A deviation from the normal straight form of the middle phalanx of the fifth toe. [HPO:probinson]


A deviation from the normal straight form of the middle phalanx of the fourth toe. [HPO:probinson]


A deviation from the normal straight form of the middle phalanx of the third toe. [HPO:probinson]


Bullet-shaped outermost bone of the little toe

Bullet-shaped outermost bone of the pinky toe

Bullet-shaped outermost bone of the pinkie toe

Bullet-shaped distal phalanx of the 5th toe

An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Bullet-shaped outermost bone of the 4th toe

Bullet-shaped distal phalanx of the 4th toe

An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Bullet-shaped outermost bone of the 3rd toe

Bullet-shaped distal phalanx of the 3rd toe

An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Bullet-shaped innermost bone of pinkie toe

Bullet-shaped innermost bone of little toe

Bullet-shaped innermost bone of pinky toe

Bullet-shaped proximal phalanx of the 5th toe

An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Bullet-shaped proximal bone of the 4th toe

Bullet-shaped proximal phalanx of the 4th toe

An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Bullet-shaped proximal bone of the 3rd toe

Bullet-shaped proximal phalanx of the 3rd toe

An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Bullet-shaped middle bone of the pinkie toe

Bullet-shaped middle bone of the little toe

Bullet-shaped middle bone of the pinky toe

Bullet-shaped middle phalanx of the 5th toe

An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Bullet-shaped middle bone of the 4th toe

Bullet-shaped middle phalanx of the 4th toe

An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Bullet-shaped middle bone of the 3rd toe

Bullet-shaped middle phalanx of the 3rd toe

An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Wide outermost bone of the pinky toe
Broad outermost bone of the 5th toe
Wide outermost bone of the pinkie toe
Wide outermost bone of the little toe


Broad outermost bone of the 4th toe
Wide outermost bone of the 4th toe


Wide outermost bone of the 3rd toe
Broad outermost bone of the 3rd toe


Broad innermost bone of the pinky toe
Broad innermost bone of the pinkie toe
Broad innermost bone of the little toe


Broad middle bone of the little toe
Broad middle bone of the pinky toe
Broad middle bone of the pinkie toe


Partial duplication of the innermost bone of 4th toe

Partial duplication of the proximal phalanx of the 4th toe


Complete duplication of the innermost 4th toe bone

Complete duplication of the proximal phalanx of the 4th toe


Complete duplication of the innermost 3rd toe bone

Complete duplication of the proximal phalanx of the 3rd toe

Complete duplication of proximal phalanx of third toe. [HPO:sdoelken]


Aplasia of the proximal phalanges of the toes


Aplasia of the middle phalanges of the toes


Absent innermost bone of the little toe
Absent innermost bone of the pinky toe
Absent innermost bone of the pinkie toe

Aplasia of the proximal phalanx of the 5th toe


Aplasia of the proximal phalanx of the 4th toe


Absent middle bone of pinky toe
Absent middle bone of pinkie toe
Absent middle bone of little toe

Aplasia of the middle phalanx of the 5th toe


Aplasia of the middle phalanx of the 4th toe


Absent outermost bone of the pinkie toe
Absent outermost bone of the little toe
Absent outermost bone of the pinky toe

Aplasia of the distal phalanx of the 5th toe


Absent distal phalanx of the 4th toe
Absent outermost bone of the 4th toe

Aplasia of the distal phalanx of the 4th toe


Absent/underdeveloped innermost 5th toe bone

Aplasia/hypoplasia of the proximal phalanx of the 5th toe

Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe. [HPO:probinson]


Absent/underdeveloped innermost 4th toe bone

Aplasia/hypoplasia of the proximal phalanx of the 4th toe

Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe. [HPO:probinson]


Absent/underdeveloped innermost bone of 3rd toe

Aplasia/hypoplasia of the proximal phalanx of the 3rd toe

Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe. [HPO:probinson]


Absent/underdeveloped middle bone of little toe

Absent/underdeveloped middle bone of pinky toe

Absent/underdeveloped middle bone of pinkie toe

Aplasia/Hypoplasia of the middle phalanx of the 5th toe


Absent/underdeveloped middle bone of the 4th toe

Aplasia/Hypoplasia of the middle phalanx of the 4th toe


Absent/underdeveloped middle 3rd toe bone

Aplasia/Hypoplasia of the middle phalanx of the 3rd toe


Absent/underdeveloped outermost pinky toe bone

Aplasia/Hypoplasia of the distal phalanx of the 5th toe


Absent/underdeveloped outermost bone of 4th toe

Aplasia/Hypoplasia of the distal phalanx of the 4th toe


Absent/underdeveloped outermost 3rd toe bone

Aplasia/Hypoplasia of the distal phalanx of the 3rd toe


Absent pinky toe bones
Absent little toe bones
Absent pinkie toe bones


Contracture of the metatarsophalangeal joint of the 5th toe

The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively. [HPO:probinson]


Contracture of the metatarsophalangeal joint of the 4th toe

The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively. [HPO:probinson]


Contracture of the metatarsophalangeal joint of the 3rd toe

The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively. [HPO:probinson]


Contracture of the metatarsophalangeal joint of the 2nd toe

The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively. [HPO:probinson]


Contracture of the outermost hinge joint of the 5th toe

Contractures of the distal interphalangeal joint of the 5th toe

The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively. [HPO:probinson]


Contracture of the distal interphalangeal joint of the 4th toe

The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively. [HPO:probinson]


Contracture of the distal interphalangeal joint of the 3rd toe

The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. [HPO:probinson]


One sided cleft palate
Unilateral palatoschisis


Fused wrist bones and long bones of hand

Fusion involving carpal and metacarpal bones. [HPO:probinson]


Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers. [HPO:sdoelken]


An abnormality of the dentate nucleus. [HPO:probinson]


Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. [HPO:probinson]


Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. [HPO:probinson, PMID:937513]


The presence of a germ cell tumor of the cerebrum. [HPO:probinson]


Bands of scar-like tisssue that hve formed within a cerebral ventricle. []


Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle. [HPO:probinson]


Muscle fibre intranuclear inclusion bodies

Muscle fiber intranuclear inclusion bodies

The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. [HPO:probinson]


Muscle fibre cytoplasmatic inclusion bodies

Muscle fiber cytoplasmatic inclusion bodies

The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. [HPO:probinson]


An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. [PMID:32508678]


The presence of amyloid deposition in the nerves of the peripheral nervous system. [HPO:probinson]


Abnormality of central somatosensory evoked potentials


Abnormality of peripheral somatosensory evoked potentials


Abnormality of pattern reversal visual evoked potentials


The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding. [HPO:probinson]


The presence of reduced conduction velocity of motor nerves on electromyography. [HPO:probinson]


EMG: impaired neuromuscular transmission

An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). [HPO:probinson]


High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound. [HPO:probinson]


EMG: continuous motor unit activity at rest

Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles. [HPO:probinson]


Periauricular sinus
Pits around the ear
Periauricular earpits
Periauricular pits
Periauricular fistulas

Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. [HPO:sdoelken]


A small, skin-lined tract that leads from the surface to deep within the tissues. []


Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion. [HPO:sdoelken]


Abnormality of dorsoventral patterning of the limbs

An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs. [HPO:sdoelken]


Depression located paramedially on the vermilion of a lip. [HPO:sdoelken]


Depression located on the vermilion of the upper lip, usually paramedian. [HPO:sdoelken]


Fusion of long bones of hand/long bones of foot


Stenosis of the medullary cavity of the long bones


The presence of mulitple lipomas located in the central nervous system. [PMID:26942290]


Calcium deposition affecting the Meninges. [HPO:sdoelken]


Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations. [HPO:sdoelken]


Fusion involving bones of the upper limbs

Synostosis involving bones of the upper limbs

An abnormal union between bones or parts of bones of the upper limbs. [HPO:sdoelken]


Triangular end part of the innermost bone of the little toe

Triangular end part of the innermost bone of the pinkie toe

Triangular end part of the innermost bone of the pinky toe

Triangular epiphysis of the proximal phalanx of the 5th toe


Speckled calcifications in the end part of the innermost bone of the pinky toe

Speckled calcifications in the end part of the innermost bone of the pinkie toe

Speckled calcifications in the end part of the innermost bone of the little toe

Stippling of the epiphysis of the proximal phalanx of the 5th toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe. [HPO:curators]


Small end part of the innermost bone of the little toe

Small end part of the innermost bone of the pinkie toe

Small end part of the innermost bone of the pinky toe

Small epiphysis of the proximal phalanx of the 5th toe


Pseudoepiphysis of the proximal phalanx of the 5th toe

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe. []


Increased bone density of end part of the innermost bone of the pinky toe

Increased bone density of end part of the innermost bone of the pinkie toe

Increased bone density of end part of the innermost bone of the little toe

Ivory epiphysis of the proximal phalanx of the 5th toe


Irregular end part of the innermost bone of the little toe

Irregular end part of the innermost bone of the pinky toe

Irregular end part of the innermost bone of the pinkie toe

Irregular epiphysis of the proximal phalanx of the 5th toe


Fragmentation of the end part of the innermost bone of the pinky toe

Fragmentation of the end part of the innermost bone of the pinkie toe

Fragmentation of the end part of the innermost bone of the little toe

Fragmentation of the epiphysis of the proximal phalanx of the 5th toe


Enlarged end part of the innermost bone of the pinkie toe

Enlarged end part of the innermost bone of the pinky toe

Enlarged end part of the innermost bone of the little toe

Enlarged epiphysis of the proximal phalanx of the 5th toe


Cone-shaped end part of the innermost bone of the pinky toe

Cone-shaped end part of the innermost bone of the pinkie toe

Cone-shaped end part of the innermost bone of the little toe

Cone-shaped epiphysis of the proximal phalanx of the 5th toe


Bracket shaped end part of the innermost bone of the little toe

Bracket shaped end part of the innermost bone of the pinky toe

Bracket shaped end part of the innermost bone of the pinkie toe

Bracket epiphysis of the proximal phalanx of the 5th toe


Absent end part of the innermost bone of the pinkie toe

Absent end part of the innermost bone of the pinky toe

Absent end part of the innermost bone of the little toe

Absent epiphysis of the proximal phalanx of the 5th toe


Triangular end part of the middle bone of the pinky toe

Triangular end part of the middle bone of the pinkie toe

Triangular end part of the middle bone of the little toe

Triangular epiphysis of the middle phalanx of the 5th toe


Speckled calcifications in middle part of the innermost bone of the pinky toe

Speckled calcifications in end part of the innermost bone of the pinkie toe

Speckled calcifications in middle part of the innermost bone of the little toe

Stippling of the epiphysis of the middle phalanx of the 5th toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe. [HPO:curators]


Small end part of the middle bone of the pinkie toe

Small end part of the middle bone of the pinky toe

Small end part of the middle bone of the little toe

Small epiphysis of the middle phalanx of the 5th toe


Pseudoepiphysis of the middle phalanx of the 5th toe

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe. []


Increased bone density of end part of the middle bone of the pinkie toe

Increased bone density of end part of the middle bone of the pinky toe

Increased bone density of end part of the middle bone of the little toe

Ivory epiphysis of the middle phalanx of the 5th toe


Irregular end part of the middle bone of the little toe

Irregular end part of the middle bone of the pinkie toe

Irregular end part of the middle bone of the pinky toe

Irregular epiphysis of the middle phalanx of the 5th toe


Fragmentation of the end part of the middle bone of the little toe

Fragmentation of the end part of the middle bone of the pinkie toe

Fragmentation of the end part of the middle bone of the pinky toe

Fragmentation of the epiphysis of the middle phalanx of the 5th toe


Enlarged end part of the middle bone of the pinkie toe

Enlarged end part of the middle bone of the little toe

Enlarged end part of the middle bone of the pinky toe

Enlarged epiphysis of the middle phalanx of the 5th toe


Cone-shaped end part of the middle bone of the little toe

Cone-shaped end part of the middle bone of the pinky toe

Cone-shaped end part of the middle bone of the pinkie toe

Cone-shaped epiphysis of the middle phalanx of the 5th toe


Bracket shaped end part of the middle bone of the pinkie toe

Bracket shaped end part of the middle bone of the little toe

Bracket shaped end part of the middle bone of the pinky toe

Bracket epiphysis of the middle phalanx of the 5th toe


Absent end part of the middle bone of the pinkie toe

Absent end part of the middle bone of the little toe

Absent end part of the middle bone of the pinky toe

Absent epiphysis of the middle phalanx of the 5th toe


Triangular end part of the outermost bone of the pinkie toe

Triangular end part of the outermost bone of the pinky toe

Triangular end part of the outermost bone of the little toe

Triangular epiphysis of the distal phalanx of the 5th toe


Speckled calcifications in the end part of the outermost bone of the pinky toe

Speckled calcifications in the end part of the outermost bone of the pinkie toe

Speckled calcifications in the end part of the outermost bone of the little toe

Stippling of the epiphysis of the distal phalanx of the 5th toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe. [HPO:curators]


Small end part of the outermost bone of the little toe

Small end part of the outermost bone of the pinky toe

Small end part of the outermost bone of the pinkie toe

Small epiphysis of the distal phalanx of the 5th toe


Pseudoepiphysis of the distal phalanx of the 5th toe


Increased bone density of end part of the outermost bone of the pinky toe

Increased bone density of end part of the outermost bone of the pinkie toe

Increased bone density of end part of the outermost bone of the little toe

Ivory epiphysis of the distal phalanx of the 5th toe


Irregular end part of the outermost bone of the pinkie toe

Irregular end part of the outermost bone of the pinky toe

Irregular end part of the outermost bone of the little toe

Irregular epiphysis of the distal phalanx of the 5th toe


Fragmentation of the end part of the outermost bone of the pinky toe

Fragmentation of the end part of the outermost bone of the little toe

Fragmentation of the end part of the outermost bone of the pinkie toe

Fragmentation of the epiphysis of the distal phalanx of the 5th toe


Enlarged end part of the outermost bone of the little toe

Enlarged end part of the outermost bone of the pinky toe

Enlarged end part of the outermost bone of the pinkie toe

Enlarged epiphysis of the distal phalanx of the 5th toe


Cone-shaped end part of the outermost bone of the pinky toe

Cone-shaped end part of the outermost bone of the little toe

Cone-shaped end part of the outermost bone of the pinkie toe

Cone-shaped epiphysis of the distal phalanx of the 5th toe


Bracket shaped end part of the outermost bone of the pinky toe

Bracket shaped end part of the outermost bone of the little toe

Bracket shaped end part of the outermost bone of the pinkie toe

Bracket epiphysis of the distal phalanx of the 5th toe


Absent end part of the outermost bone of the little toe

Absent end part of the outermost bone of the pinkie toe

Absent end part of the outermost bone of the pinky toe

Absent epiphysis of the distal phalanx of the 5th toe


Triangular end part of the innermost bone of the 4th toe

Triangular epiphysis of the proximal phalanx of the 4th toe


Speckled calcifications in the end part of the innermost bone of the 4th toe

Stippling of the epiphysis of the proximal phalanx of the 4th toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe. [HPO:curators]


Small end part of the innermost bone of the 4th toe

Small epiphysis of the proximal phalanx of the 4th toe


Pseudoepiphysis of the proximal phalanx of the 4th toe

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe. []


Increased bone density of end part of the innermost bone of the 4th toe

Ivory epiphysis of the proximal phalanx of the 4th toe


Irregular end part of the innermost bone of the 4th toe

Irregular epiphysis of the proximal phalanx of the 4th toe


Fragmentation of the end part of the innermost bone of the 4th toe

Fragmentation of the epiphysis of the proximal phalanx of the 4th toe


Enlarged end part of the innermost bone of the 4th toe

Enlarged epiphysis of the proximal phalanx of the 4th toe


Cone-shaped end part of the innermost bone of the 4th toe

Cone-shaped epiphysis of the proximal phalanx of the 4th toe


Bracket shaped end part of the innermost bone of 4th toe

Bracket epiphysis of the proximal phalanx of the 4th toe


Absent end part of the innermost bone of the 4th toe

Absent epiphysis of the proximal phalanx of the 4th toe


Triangular end part of the middle bone of the 4th toe

Triangular epiphysis of the middle phalanx of the 4th toe


Speckled calcifications in the end part of the middle bone of the 4th toe

Stippling of the epiphysis of the middle phalanx of the 4th toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe. [HPO:curators]


Small end part of middle long bone of 4th toe

Small epiphysis of the middle phalanx of the 4th toe


Pseudoepiphysis of the middle phalanx of the 4th toe

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe. []


Increased bone density of end part of the middle bone of the 4th toe

Ivory epiphysis of the middle phalanx of the 4th toe


Irregular end part of the middle bone of the 4th toe

Irregular epiphysis of the middle phalanx of the 4th toe


Fragmentation of the end part of the middle bone of the 4th toe

Fragmentation of the epiphysis of the middle phalanx of the 4th toe


Enlarged end part of the middle bone of the 4th toe

Enlarged epiphysis of the middle phalanx of the 4th toe


Cone-shaped end part of the middle bone of the 4th toe

Cone-shaped epiphysis of the middle phalanx of the 4th toe


Bracket shaped end part of the middle bone of the 4th toe

Bracket epiphysis of the middle phalanx of the 4th toe


Absent end part of the middle bone of the 4th toe

Absent epiphysis of the middle phalanx of the 4th toe


Triangular end part of the outermost bone of the 4th toe

Triangular epiphysis of the distal phalanx of the 4th toe


Speckled calcifications in the end part of the outermost bone of the 4th toe

Stippling of the epiphysis of the distal phalanx of the 4th toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe. [HPO:curators]


Small end part of the outermost bone of the 4th toe

Small epiphysis of the distal phalanx of the 4th toe


Pseudoepiphysis of the distal phalanx of the 4th toe


Increased bone density of end part of the outermost bone of the 4th toe

Ivory epiphysis of the distal phalanx of the 4th toe


Irregular end part of the outermost bone of the 4th toe

Irregular epiphysis of the distal phalanx of the 4th toe


Fragmentation of the end part of the outermost bone of the 4th toe

Fragmentation of the epiphysis of the distal phalanx of the 4th toe


Enlarged end part of the outermost bone of the 4th toe

Enlarged epiphysis of the distal phalanx of the 4th toe


Cone-shaped end part of the outermost bone of the 4th toe

Cone-shaped epiphysis of the distal phalanx of the 4th toe


Bracket shaped end part of the outermost bone of the 4th toe

Bracket epiphysis of the distal phalanx of the 4th toe


Absent end part of the outermost bone of the 4th toe

Absent epiphysis of the distal phalanx of the 4th toe


Fragmented appearance of the epiphyses. [HPO:sdoelken]


Triangular end part of the innermost bone of the 3rd toe

Triangular epiphysis of the proximal phalanx of the 3rd toe


Speckled calcifications in of the end part of the innermost bone of the 3rd toe

Stippling of the epiphysis of the proximal phalanx of the 3rd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe. [HPO:curators]


Small end part of the innermost bone of the 3rd toe

Small epiphysis of the proximal phalanx of the 3rd toe


Pseudoepiphysis of the proximal phalanx of the 3rd toe

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe. []


Increased bone density of end part of the innermost bone of the 3rd toe

Ivory epiphysis of the proximal phalanx of the 3rd toe


Irregular end part of the innermost bone of the 3rd toe

Irregular epiphysis of the proximal phalanx of the 3rd toe


Fragmentation of the end part of the innermost bone of the 3rd toe

Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe


Enlarged end part of the innermost bone of the 3rd toe

Enlarged epiphysis of the proximal phalanx of the 3rd toe


Cone-shaped end part of the innermost bone of the 3rd toe

Cone-shaped epiphysis of the proximal phalanx of the 3rd toe


Bracket shaped end part of the innermost bone of 3rd toe

Bracket epiphysis of the proximal phalanx of the 3rd toe


Absent end part of the innermost bone of the 3rd toe

Absent epiphysis of the proximal phalanx of the 3rd toe


Triangular end part of the middle bone of the 3rd toe

Triangular epiphysis of the middle phalanx of the 3rd toe


Speckled calcifications in the end part of the middle bone of the 3rd toe

Stippling of the epiphysis of the middle phalanx of the 3rd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe. [HPO:curators]


Small end part of the middle bone of the 3rd toe

Small epiphysis of the middle phalanx of the 3rd toe


Pseudoepiphysis of the middle phalanx of the 3rd toe


Increased bone density of end part of the middle bone of the 3rd toe

Ivory epiphysis of the middle phalanx of the 3rd toe


Irregular end part of the middle bone of the 3rd toe

Irregular epiphysis of the middle phalanx of the 3rd toe


Fragmentation of the end part of the middle bone of the 3rd toe

Fragmentation of the epiphysis of the middle phalanx of the 3rd toe


Enlarged end part of the middle bone of the 3rd toe

Enlarged epiphysis of the middle phalanx of the 3rd toe


Cone-shaped end part of the middle bone of the 3rd toe

Cone-shaped epiphysis of the middle phalanx of the 3rd toe


Bracket shaped end part of the middle bone of 3rd toe

Bracket epiphysis of the middle phalanx of the 3rd toe


Absent end part of the middle bone of the 3rd toe

Absent epiphysis of the middle phalanx of the 3rd toe


Triangular end part of the outermost bone of the 3rd toe

Triangular epiphysis of the distal phalanx of the 3rd toe


Speckled calcifications in the end part of the outermost bone of the 3rd toe

Stippling of the epiphysis of the distal phalanx of the 3rd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe. [HPO:curators]


Small end part of the outermost bone of the 3rd toe

Small epiphysis of the distal phalanx of the 3rd toe


Pseudoepiphysis of the distal phalanx of the 3rd toe


Increased bone density of end part of the outermost bone of the 3rd toe

Ivory epiphysis of the distal phalanx of the 3rd toe


Irregular end part of the outermost bone of the 3rd toe

Irregular epiphysis of the distal phalanx of the 3rd toe


Fragmentation of the end part of the outermost bone of the 3rd toe

Fragmentation of the epiphysis of the distal phalanx of the 3rd toe


Enlarged end part of the outermost bone of the 3rd toe

Enlarged epiphysis of the distal phalanx of the 3rd toe


Cone-shaped end part of the outermost bone of the 3rd toe

Cone-shaped epiphysis of the distal phalanx of the 3rd toe


Bracket shaped end part of the outermost bone of the 3rd toe

Bracket epiphysis of the distal phalanx of the 3rd toe


Absent end part of the outermost bone of the 3rd toe

Absent epiphysis of the distal phalanx of the 3rd toe


Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty. [HPO:sdoelken]


Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty. [HPO:sdoelken]


Triangular end part of the innermost bone of the 2nd toe

Triangular epiphysis of the proximal phalanx of the 2nd toe


Speckled calcifications in the end part of the innermost bone of the 2nd toe

Stippling of the epiphysis of the proximal phalanx of the 2nd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe. [HPO:curators]


Small end part of the innermost bone of the 2nd toe

Small epiphysis of the proximal phalanx of the 2nd toe


Pseudoepiphysis of the proximal phalanx of the 2nd toe

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe. []


Increased bone density of end part of the innermost bone of the 2nd toe

Ivory epiphysis of the proximal phalanx of the 2nd toe


Irregular end part of the innermost bone of the 2nd toe

Irregular epiphysis of the proximal phalanx of the 2nd toe


Fragmentation of the end part of the innermost bone of the 2nd toe

Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe


Enlarged end part of the innermost bone of the 2nd toe

Enlarged epiphysis of the proximal phalanx of the 2nd toe


Cone-shaped end part of the innermost bone of the 2nd toe

Cone-shaped epiphysis of the proximal phalanx of the 2nd toe


Bracket shaped end part of the innermost bone of the 2nd toe

Bracket epiphysis of the proximal phalanx of the 2nd toe


Absent end part of the innermost bone of the 2nd toe

Absent epiphysis of the proximal phalanx of the 2nd toe


Triangular end part of the middle bone of the 2nd toe

Triangular epiphysis of the middle phalanx of the 2nd toe


Speckled calcifications in of the end part of the middle bone of the 2nd toe

Stippling of the epiphysis of the middle phalanx of the 2nd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe. [HPO:curators]


Small end part of the middle bone of the 2nd toe

Small epiphysis of the middle phalanx of the 2nd toe


Pseudoepiphysis of the middle phalanx of the 2nd toe

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe. []


Increased bone density of end part of the middle bone of the 2nd toe

Ivory epiphysis of the middle phalanx of the 2nd toe


Irregular end part of the middle bone of the 2nd toe

Irregular epiphysis of the middle phalanx of the 2nd toe


Fragmentation of the end part of the middle bone of the 2nd toe

Fragmentation of the epiphysis of the middle phalanx of the 2nd toe


Enlarged end part of the middle bone of the 2nd toe

Enlarged epiphysis of the middle phalanx of the 2nd toe


Cone-shaped end part of the middle bone of the 2nd toe

Cone-shaped epiphysis of the middle phalanx of the 2nd toe


Bracket shaped end part of the middle bone of the 2nd toe

Bracket epiphysis of the middle phalanx of the 2nd toe


Absent end part of the middle bone of the 2nd toe

Absent epiphysis of the middle phalanx of the 2nd toe


Triangular end part of the outermost bone of the 2nd toe

Triangular epiphysis of the distal phalanx of the 2nd toe


Speckled calcifications in the end part of the outermost bone of the 2nd toe

Stippling of the epiphysis of the distal phalanx of the 2nd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe. [HPO:curators]


Small end part of the outermost bone of the 2nd toe

Small epiphysis of the distal phalanx of the 2nd toe


Pseudoepiphysis of the distal phalanx of the 2nd toe


Increased bone density of end part of the outermost bone of the 2nd toe

Ivory epiphysis of the distal phalanx of the 2nd toe


Irregular end part of the outermost bone of the 2nd toe

Irregular epiphysis of the distal phalanx of the 2nd toe


Fragmentation of the end part of the outermost bone of the 2nd toe

Fragmentation of the epiphysis of the distal phalanx of the 2nd toe


Enlarged end part of the outermost bone of the 2nd toe

Enlarged epiphysis of the distal phalanx of the 2nd toe


Cone-shaped end part of the outermost bone of the 2nd toe

Cone-shaped epiphysis of the distal phalanx of the 2nd toe


Bracket shaped end part of the outermost bone of the 2nd toe

Bracket epiphysis of the distal phalanx of the 2nd toe


Absent end part of the outermost bone of the 2nd toe

Absent epiphysis of the distal phalanx of the 2nd toe


Abnormality of the end part of the innermost bone of the little toe

Abnormality of the end part of the innermost bone of the pinkie toe

Abnormality of the end part of the innermost bone of the pinky toe

Abnormality of the epiphysis of the proximal phalanx of the 5th toe


Abnormality of the end part of the middle bone of the pinkie toe

Abnormality of the end part of the middle bone of the pinky toe

Abnormality of the end part of the middle bone of the little toe

Abnormality of the epiphysis of the middle phalanx of the 5th toe


Abnormality of the end part of the outermost bone of the pinky toe

Abnormality of the end part of the outermost bone of the little toe

Abnormality of the end part of the outermost bone of the pinkie toe

Abnormality of the epiphysis of the distal phalanx of the 5th toe


Abnormality of the end part of the innermost bone of the 4th toe

Abnormality of the epiphysis of the proximal phalanx of the 4th toe


Abnormality of the end part of the middle bone of the 4th toe

Abnormality of the epiphysis of the middle phalanx of the 4th toe


Abnormality of the end part of the outermost bone of the 4th toe

Abnormality of the epiphysis of the distal phalanx of the 4th toe


Abnormality of the end part of the innermost bone of the 3rd toe

Abnormality of the epiphysis of the proximal phalanx of the 3rd toe


Abnormality of the end part of the middle bone of the 3rd toe

Abnormality of the epiphysis of the middle phalanx of the 3rd toe


Abnormality of the end part of the outermost bone of the 3rd toe

Abnormality of the epiphysis of the distal phalanx of the 3rd toe


Abnormality of the end part of the innermost bone of the 2nd toe

Abnormality of the epiphysis of the proximal phalanx of the 2nd toe


Abnormality of the end part of the middle bone of the 2nd toe

Abnormality of the epiphysis of the middle phalanx of the 2nd toe


Abnormality of the end part of the outermost bone of the 2nd toe

Abnormality of the epiphysis of the distal phalanx of the 2nd toe


Triangular end part of the pinkie toe bone

Triangular end part of the little toe bone

Triangular end part of the pinky toe bone


Speckled calcifications in the end part of the pinkie toe bone

Speckled calcifications in the end part of the pinky toe bone

Speckled calcifications in the end part of the little toe bone

Stippling of the epiphyses of the 5th toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe. [HPO:curators]


Small end part of the pinkie toe bone
Small end part of the little toe bone
Small end part of the pinky toe bone


Increased bone density of end part of the pinkie toe bone

Increased bone density of end part of the little toe bone

Increased bone density of end part of the pinky toe bone

Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]


Irregular end part of the pinky toe bone

Irregular end part of the pinkie toe bone

Irregular end part of the little toe bone


Fragmentation of the end part of the pinkie toe bone

Fragmentation of the end part of the pinky toe bone

Fragmentation of the end part of the little toe bone

Fragmentation of the epiphyses of the 5th toe


Enlarged end part of the pinkie toe bone

Enlarged end part of the little toe bone


Cone-shaped end part of the pinkie toe bone

Cone-shaped end part of the pinky toe bone

Cone-shaped end part of the little toe bone


Bracket shaped end part of little toe bone

Bracket shaped end part of pinky toe bone

Bracket shaped end part of pinkie toe bone


Absent end part of the pinkie toe bone
Absent end part of the pinky toe bone
Absent end part of the little toe bone


Speckled calcifications in the end part of the 4th toe bone

Stippling of the epiphyses of the 4th toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe. [HPO:curators]


Increased bone density of end part of the 4th toe bone

Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]


Fragmentation of the end part of the 4th toe bone

Fragmentation of the epiphyses of the 4th toe


Cone-shaped end part of the 4th toe bone


Speckled calcifications in the end part of the 3rd toe bone

Stippling of the epiphyses of the 3rd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe. [HPO:curators]


Increased bone density of end part of the 3rd toe bone

Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]


Fragmentation of the end part of the 3rd toe bone

Fragmentation of the epiphyses of the 3rd toe


Cone-shaped end part of the 3rd toe bone


Speckled calcifications in the end part of the 2nd toe bone

Stippling of the epiphyses of the 2nd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe. [HPO:curators]


Increased bone density of end part of the 2nd toe

Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]


Fragmentation of the end part of the 2nd toe bone

Fragmentation of the epiphyses of the 2nd toe


Cone-shaped end part of the 2nd toe bone


Broad little toe
Broad pinky toe
Broad pinkie toe
Broad 5th toe

A broad appearance of the fifth toe. [HPO:sdoelken]


A broad appearance of the fourth toe. [HPO:sdoelken]


A broad appearance of the third toe. [HPO:sdoelken]


A broad appearance of the second toe. [HPO:sdoelken]


An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones. [HPO:sdoelken]


Scalp hair whose growth is slower than normal. [DDD:cmoss]


An abnormality of the hair of head. [HPO:probinson]


Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. [HPO:sdoelken]


A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction. [HPO:sdoelken]


A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down. [HPO:probinson]


A cataract which is found in the back outer layer of the lens. This type often develops more rapidly. [HPO:sdoelken]


A Malignant mesothelioma of the testis. [HPO:probinson]


An early onset of puberty, in this case early does not refer to precocious. [HPO:probinson]


An increased amount of 3-aminoisobutyric acid in the urine. []


Partial duplication of eyebrows
Partial double eyebrow


Congenital malformation of the left heart

Defect or defects of the morphogenesis of the left heart identifiable at birth. []


Decreased urinary catecholamine concentration


Decreased urine bicarbonate concentration

Abnormally decreased concentration of hydrogencarbonate in the urine. []


A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry. []


Aplasia (absence) of the lymphatic vessels. [ORCID:0000-0001-5208-3432]


Abnormal ossification of the trapezoid bone


Abnormal spaced incisors
Abnormality of spacing of incisors
Abnormality of spacing of front teeth


An increased amount of carboxylic acid in the urine. []


An increased amount of 3-hydroxybutyric acid in the urine. []


Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity. [PMID:15083853]


Abnormal liver iron level
Abnormal liver iron concentration


Abnormal sensory nerve conduction velocity


An abnormality of the composition of sweat or the levels of its components. []


Impairment of the reflex of the tensor tympani muscle


Abnormal middle-ear-muscles (MEM) reflex

An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation. []


Abnormality of the reflex of the tensor tympani muscle


Unilateral conductive hearing impairment


Absence of the reflex of the tensor tympani muscle


Morphological abnormality of the saccule


Morphological abnormality of the utricle


Morphological abnormality of the anterior semicircular canal


Morphological abnormality of the posterior semicircular canal


Osseous stenosis of the external auditory canal


Cutaneous stenosis of the external auditory canal


Osseous atresia of the external auditory canal


Cutaneous atresia of the external auditory canal


A tumor (abnormal growth of tissue) of the outer ear. [HPO:probinson]


An abnormality of the tympanic membrane []


Abnormal levels of creatine kinase in blood

Abnormal circulation phospho-CK concentration

Abnormal circulating creatine kinase concentration

Any deviation from the normal circulating creatine kinase concentration. [https://orcid.org/0000-0001-7941-2961]


Abnormal blood calcium concentration
Abnormal blood calcium levels
Abnormal circulating Ca concentration
Abnormal circulating Ca2+ concentration

Abnormal circulating calcium concentration

Any deviation from the normal concentration of calcium in the blood circulation. [HPO:probinson]


Abnormal shape of bones of the lower limbs

Abnormal morphology of bones of the lower limbs


Abnormal shape of bones of the upper limbs

Abnormal morphology of bones of the upper limbs


A decrease in the amount of adipose tissue.


Failure of development of upper eyelashes


Decreased length of lower eyelashes
Short lower eyelashes


Short upper eyelashes
Decreased length of upper eyelashes


Increased length of lower eyelashes
Long lower eyelashes
Ciliary trichomegaly of lower eyelashes


Hypotrichosis of upper eyelashes
Sparse upper eyelashes
Partial absence of upper eyelashes


Onycholysis of toenails
Detachment of toenails

Painless and spontaneous separation of a toenail from the nail bed. []


Abnormality of the 4th long bone of foot

Abnormality of the fourth metatarsal bone


Abnormality of the 2nd long bone of foot

Abnormality of the second metatarsal bone


Absent/underdeveloped 5th long bone of foot

Aplasia/Hypoplasia of the fifth metatarsal bone


Underdevelopment of upper eyelid
Small upper eyelid
Hypotrophic upper eyelid
Short upper eyelid
Decreased size of upper eyelid


Curvature of index finger
Second finger clinodactyly


Increased activity of mitochondrial respiratory chain


Aplasia of facial skeleton
Absence of facial bones
Failure of development of facial bones


Lack of skin coloring on chest
Lack of skin colouring on chest

Lack of skin pigmentation (coloring) of the chest. [HPO:skoehler]


Elevated CD4-positive, CD25-positive regulatory T cell count

An increased number of CD4-positive, CD25-positive regulatory T cells. [HPO:probinson]


Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology

A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells. [HPO:probinson]


A structuraly anomaly of T cells that express an alpha-beta T cell receptor. []


Impaired stimulus-induced skin wrinkling

A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth). [PMID:19375384, UToronto:bgallinger]


Multinucleated giant chondrocytes in epiphyseal cartilage

The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage. [HPO:probinson]


Decreased number of osteoclasts in bone tissue. [HPO:probinson, PMID:3513575]


An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue. []


An anomaly in the number of macrophages. [HPO:probinson]


Fissure within the spinal cord of the neck. [HPO:probinson]


Underdevelopment of the vertebral artery on both sides. [HPO:probinson, PMID:23816871]