High maternal serum chorionic gonadotropin

An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. [DDD:hfirth, PMID:2447576]


A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth. [HPO:probinson]


An abnormality of myelination of nerves in the central nervous system. [DDD:fmuntoni]


Absent the eighth cranial nerve
Absent vestribular nerve
Aplasia of the eighth cranial nerve
Absent cranial nerve viii

Absence of the vestibular nerve [DDD:mbitner-glidicz]


Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular. [DDD:dfitzpatrick]


Abnormality of the internal acoustic meatus

Abnormality of the internal auditory canal

An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse. [DDD:mbitner-glidicz]


Increased size of the semicircular canal. [DDD:dfitzpatrick]


Generalised abnormality of skin
Generalized abnormality of skin

An abnormality of the skin that is not localized to any one particular region. [DDD:cmoss]


Partial cleft of the upper lip
Incomplete cleft of the upper lip
Notched cleft of the upper lip
Forme fruste unilateral cleft lip
Incomplete cheiloschisis

A subtle unilateral cleft of the upper lip, which may appear as a small indentation. [DDD:jclayton-smith]


Distortion of facial shape
Facial shape compression
Facial shape deformation


Occipital plagiocephaly
Deformational posterior plagiocephaly

Asymmetry of the posterior part of the skull. [DDD:awilkie, PMID:10876272]


Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified. [DDD:awilkie]


Unilateral lambdoid suture synostosis
Unilateral lambdoid craniosynostosis

Premature synostosis of only one lambdoid suture. [DDD:awilkie]


Bilateral lambdoid suture synostosis
Bilateral lambdoid craniosynostosis

Premature synostosis of both lambdoid sutures. [DDD:awilkie]


Bilateral coronal suture craniosynostosis

Synostosis affecting the right and the left coronal suture. [DDD:awilkie]


Abnormality of the tubular bones
Abnormal shape of long bone

An abnormality of size or shape of the long bones. [HPO:probinson]


Transitional palmar crease
Bridged palm line

A crease that connects the proximal and distal transverse palmar creases. [PMID:19125433]


The gradual reduction in girth of the toe from proximal to distal. [PMID:19125433]


Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. [PMID:19125433]


Hypophalangy of toes
Partial absence of toe

The absence of a phalangeal segment of a toe or hallux. [PMID:19125433]


Abnormal shape of hindbrain
Abnormality of the hindbrain

An abnormality of the hindbrain, also known as the rhombencephalon. [HPO:probinson]


Tragus, prominent
Hyperplastic tragus
Hypertrophic tragus
Enlarged tragus
Large tragus

Increase posterolateral protrusion of the tragus. [PMID:19152421]


A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus. [PMID:19152421]


Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak. [PMID:19152421]


Presence of some auricular structures, but none of these structures conform to recognized ear components. [PMID:19152421]


Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. [PMID:19152421]


Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid. [PMID:19152421]


Forward facing earlobe
Lobe, forward facing

Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear. [HPO:probinson, PMID:19152421]


Linear, circumferential indentation in the convexity of the outer surface of the helix. [PMID:19152421]


Small expansion of the helical fold at the junction of the superior and descending portions of the helix. [PMID:19152421]


Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix. [PMID:19152421]


Expanded terminal portion of crus of helix

Widening, rather than tapering, of the crus at its posterior border near the antihelix. [PMID:19152421]


The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix. [PMID:19152421]


Curving course of the crus of the helix, approaching or joining the antitragus. [PMID:19152421]


Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix. [PMID:19152421]


Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha. [PMID:19152421]


Hypotrophic antitragus
Small antitragus
Hypoplastic antitragus

Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. [HPO:probinson, PMID:19152421]


Double rather than single peak of the antitragus. [PMID:19152421]


Hypertrophic superior crus of antihelix
Hyperplastic superior crus of antihelix

Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem. [PMID:19152421]


Hypoplastic superior crus of antihelix
Hypotrophic superior crus of antihelix

Underdeveloped superior crus of antihelix

Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem. [PMID:19152421]


Abnormality of posterior crus of antihelix

Abnormality of superior crus of antihelix

An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. [HPO:probinson, PMID:19152421]


Abnormality of anterior crus of antihelix

Abnormality of inferior crus of antihelix

An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. [HPO:probinson, PMID:19152421]


Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix. [PMID:19152421]


Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha. [PMID:19152421]


Antihelix, inferior crus, underdeveloped

Underdeveloped inferior crus of antihelix

Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem. [PMID:19152421]


Antihelix, inferior crus, prominent
Hyperplastic inferior crus of antihelix
Hypertrophic inferior crus of antihelix

Increased protrusion of the inferior crus relative to the prominence of the antihelix stem. [HPO:19152421]


Increased width of the inferred cross-section of the inferior crus. [PMID:19152421]


Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha. [PMID:19152421]


EEG with generalised slow activity grade 4

EEG with generalized slow activity grade 4

EEG without electrical activity. [HPO:jalbers]


EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:jalbers]


Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach. [HPO:probinson]


Abnormality of the dorsum of nose
Malformation of the nasal dorsum
Deformity of the dorsum of the nose
Malformation of the dorsum of nose
Deformity of the nasal ridge
Deformity of the nasal dorsum
Malformation of the nasal ridge
Anomaly of the nasal ridge
Abnormality of the nasal ridge

An abnormality of the nasal dorsum, also known as the nasal ridge. [HPO:probinson, PMID:19152422]


Failure of development of molar
Absent molars

Agenesis of molar tooth. [HPO:ibailleulforestier]


The speed at which disease manifestations appear and develop. [HPO:probinson]


Abnormality of the systemic arterial tree

An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. [HPO:probinson]


Chromosomal breakage induced by ionising radiation

Chromosomal breakage induced by ionizing radiation

Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation. [HPO:sdoelken, PMID:16814619]


An abnormality of the cerebral subcortex. [HPO:probinson]


Abnormal number of B cells
Abnormality of B cell count
Abnormal numbers of B cells
Abnormality of B cell numbers

A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. [HPO:probinson, MP:0002458]


Abnormal circulating fatty-acid anion concentration

Any deviation from the normal concentration of a fatty acid anion in the blood circulation. [HPO:probinson]


Abnormality of the foetal cardiovascular system

Abnormality of the foetal circulation system

Abnormality of the fetal circulation system

Abnormality of the fetal cardiovascular system

Abnormal fetal cardiovascular morphology

A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. [DDD:dbrown, HPO:probinson]


Periodically recurring abnormalities in the EEG. [HPO:probinson]


Radermecker complexes
EEG: periodic complexes

Periodically occurring generalized periodic complexes. [HPO:jalbers]


EEG with localised low amplitude activity

EEG with localized low amplitude activity

An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:probinson]


EEG with generalised low amplitude activity

EEG with generalized low amplitude activity

An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:probinson]


EEG: periodic lateralized epileptiform discharges

EEG with periodic lateralized epileptiform discharges

Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds). [HPO:probinson]


EEG: persistent abnormal rhythmic activity

EEG with persistent abnormal rhythmic activity


EEG: generalised slow activity
EEG: generalized slow activity
EEG with generalised slow activity

Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:probinson]


EEG: localized slow activity
EEG: focal slow activity
EEG: localised slow activity

Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy). [HPO:probinson]


An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). [HPO:probinson]


Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails. [HPO:probinson]


Impaired touch sensation
Abnormal thigmesthesia
Loss of tactile sensation

A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. [HPO:probinson]


Loss of temperature sensation
Impaired temperature sensation
Impaired thermal sensitivity
Abnormality of temperature sensation

A reduced ability to discriminate between different temperatures. [HPO:probinson]


Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. [HPO:probinson]


Abnormality of cranial nerve xii
Abnormality of the hypoglossal nerve
Abnormality of cranial nerve 12

Abnormality of the twelfth cranial nerve. [HPO:probinson]


Abnormality of cranial nerve XI
Abnormality of the accessory nerve

Abnormality of the eleventh cranial nerve. [HPO:probinson]


Abnormality of the fifth cranial nerve
Abnormality of the nervus trigeminus
Abnormal trigeminal nerve morphology

Any structural abormality of the fifth cranial nerve. [HPO:probinson]


Nasolabial crease, underdeveloped
Nasolabial fold, hypoplastic
Nasolabial crease, hypoplastic
Flat nasolabial fold
Shallow nasolabial fold

Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure). [PMID:19125428]


A tumor (abnormal growth of tissue) of a gonad. [HPO:probinson]


Insertion of the posterior columella below the nasal base. [PMID:19152422]


Abnormal position of the lacrimal punctum

Positioning of a lacrimal punctum other than at the medial margins of the eyelid. [PMID:19125427]


Absent bones of the toes
Aphalangia of the toes

Absence of a digit or of one or more phalanges of a toe. [HPO:probinson]


Absent long bone of foot
Aplasia of the metatarsal bones

A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. [HPO:probinson]


Prominent corneal nerve fibres
Visible corneal nerve fibers
Visible corneal nerve fibres

Abnormal prominence of the corneal nerve fibers. [DDD:ncarter, HPO:probinson]


Syndactyly of toes 2, 3 and 4
Syndactyly toes 2-4
Webbed 2nd-4th toes

Syndactyly with fusion of toes two to four. [HPO:sdoelken]


Syndactyly of all toes
Webbed 1st-5th toes

Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot). [HPO:sdoelken]


Webbed index through ring fingers
Syndactyly of second to fourth fingers

Syndactyly with fusion of the fingers two to four. [HPO:sdoelken]


Mirror image duplication of digits affecting the feet. [HPO:sdoelken]


Mirror image duplication of digits affecting the hands only. [HPO:sdoelken]


Elevated alkaline phosphatase, liver/bone/kidney

Elevated tissue non-specific alkaline phosphatase

An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. [HPO:probinson]


Abnormality of the mineralisation and ossification of bones of the feet

An abnormality of the formation and mineralization of any bone of the skeleton of foot. [HPO:probinson]


Hypoplasia of cheekbone
Cheekbone underdevelopment
Hypotrophy of the zygomatic bone
Underdevelopment of zygomatic bone
Hypotrophy of the cheekbone
Decreased size of zygomatic bone
Underdevelopment of cheekbone
Decreased size of cheekbone

Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436]


Abnormality of the thalamus
Abnormal shape of thalamus

An abnormality of the thalamus. [HPO:probinson]


Abnormality of the mineralisation and ossification of bones of the hand

An abnormality of the formation and mineralization of any bone of the skeleton of hand. [HPO:probinson]


Patchy increased and decreased bone mineral density

Patchy variation in bone mineral density

Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays. [HPO:probinson]


Abnormal maturation of the end part of a bone

Abnormality of the mineralisation or ossification of the epiphyses

An abnormality of the formation and mineralization of an epiphysis. [HPO:probinson]


An abnormality of the Falx cerebri. [HPO:probinson]


Abnormality of the epiphyses of the metatarsals

Abnormality of end part of long bone of foot

Any abnormality of a metatarsal bone epiphysis. [HPO:curators]


Absent pituitary gland
Aplasia of the pituitary gland

Absence of the anterior pituitary gland resulting from a developmental defect. [DDD:spark, HPO:probinson, HPO:skoehler]


A cystic lesion originating within the brain. [HPO:probinson]


The presence of developmental dysplasia of the femoral head. [HPO:probinson]


Abnormality of the proximal femoral epiphysis

Abnormality of the end part of the innermost thighbone

Abnormality of the epiphysis of the femoral head

Any abnormality of the proximal epiphysis of the femur. [HPO:sdoelken]


An abnormally wavy surface or edge of the clavicles. [HPO:curators]


Webbed fingers
Cutaneous syndactyly of fingers
Cutaneous finger syndactyly
Cutaneous syndactyly of hands

A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. [PMID:19125433]


Weakness due to upper motor neuron dysfunction

Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. [HPO:probinson]


Increased foetal movement
Foetal hyperkinesia
Fetal hyperkinesia

An abnormal increase in quantity or strength of fetal movements. [HPO:curators]


Absence of the tarsal bones. [HPO:curators]


Abnormal prints on feet
Abnormal dermatoglyphics on feet

An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot. [HPO:probinson]


Limitation of knee mobility
Limited knee movement

An abnormal limitation of knee joint mobility. [HPO:curators]


Elongated long bone of hand
Increased length of metacarpals

An abnormally increased length of the metacarpal bones. [HPO:probinson]


A narrow segment of significantly reduced circumference of a digit. [PMID:19125433]


Absent palm lines
Absence of the palmar creases
Aplasia of the palmar creases

The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). [HPO:probinson, PMID:19125433]


Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology. [HPO:probinson]


Abnormal interventricular septum morphology

A structural abnormality of the interventricular septum. [HPO:probinson]


Short proximal phalanx of the second toe

Hypoplastic/small proximal phalanx of the 2nd toe

Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia. [HPO:sdoelken]


Hypoplastic/small middle phalanx of the 2nd toe

Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia. [HPO:probinson]


Hypoplastic/small distal phalanx of the 2nd toe

Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia. [HPO:probinson]


Aplasia of the distal phalanx of the 2nd toe

Absence of distal phalanx of the second toe as a result of developmental aplasia. [HPO:probinson]


Hypoplastic/small phalanges of the 2nd toe

Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia. [HPO:probinson]


Partial duplication of the proximal phalanx of the second toe

Partial duplication of the innermost 2nd toe bone

Partial duplication of the proximal phalanx of the 2nd toe

Partial duplication of proximal phalanx of second toe. [HPO:probinson]


Complete duplication of the innermost 2nd toe bone

Complete duplication of the proximal phalanx of the second toe

Complete duplication of the proximal phalanx of the 2nd toe

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


Duplication of the outermost bone of the 2nd toe

Partial/complete duplication of the distal phalanx of the 2nd toe

Duplication of the distal phalanx of the 2nd toe

Partial or complete duplication of the distal phalanx of second toe. [HPO:sdoelken]


Partial/complete duplication of the middle phalanx of the 2nd toe

Duplication of the middle phalanx of the 2nd toe

Partial or complete duplication of middle phalanx of second toe. [HPO:sdoelken]


Partial/complete duplication of the proximal phalanx of the 2nd toe

Duplication of the proximal phalanx of the second toe

Duplication of the proximal phalanx of the 2nd toe

Partial or complete duplication of proximal phalanx of second toe. [HPO:sdoelken]


Uneven increase in bone density in pinky toe bone

Uneven increase in bone density in little toe bone

Patchy sclerosis of the phalanges of the 5th toe

Uneven increase in bone density in pinkie toe bone

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


Curved little toe bones
Curved pinkie toe bones
Curved phalanges of the 5th toe
Curved pinky toe bones

A deviation from the normal straight form of one or more phalanges of the fifth toe. [HPO:probinson]


Bullet-shaped phalanges of the 5th toe
Bullet-shaped bones of the pinkie toe
Bullet-shaped bones of the pinky toe
Bullet-shaped bones of the little toe

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


Partial/complete duplication of the phalanges of the 4th toe

Duplication of phalanx of the fourth toe

Partial or complete duplication of phalanx of fourth toe. [HPO:probinson]


Patchy sclerosis of the phalanges of the 4th toe

Uneven increase in bone density in 4th toe bone

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


Curved bones of 4th toe
Curved phalanges of the 4th toe

A deviation from the normal straight form of one or more phalanges of the fourth toe. [HPO:probinson]


Bullet-shaped bones of the 4th toe
Bullet-shaped phalanges of the 4th toe

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


Partial/complete duplication of the phalanges of the 3rd toe

Partial or complete duplication of phalanx of third toe. [HPO:sdoelken]


Patchy sclerosis of the phalanges of the 3rd toe

Uneven increase in bone density in 3rd toe bone

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


Curved bones of 3rd toe
Curved phalanges of the 3rd toe

A deviation from the normal straight form of one or more phalanges of the third toe. [HPO:probinson]


Bullet-shaped bones of 3rd toe
Bullet-shaped phalanges of the 3rd toe

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


Partial/complete duplication of the phalanges of the 2nd toe

Duplication of the phalanges of the 2nd toe

Partial or complete duplication of a phalanx of second toe. [HPO:sdoelken]


Uneven increase in bone density in 2nd toe bone

Patchy sclerosis of the phalanges of the 2nd toe

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


Curved bones of the 2nd toe
Curved phalanges of the 2nd toe

A deviation from the normal straight form of one or more phalanges of the second toe. [HPO:probinson]


Bullet-shaped phalanges of the 2nd toe
Bullet-shaped bones of the 2nd toe

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


One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively. [HPO:probinson]


Displacement of the pinky toe
Displacement of the 5th toe
Displacement of the pinkie toe
Displacement of the little toe


One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively. [HPO:probinson]


One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively. [HPO:probinson]


One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively. [HPO:probinson]


Absence of the scapulae. [HPO:probinson]


Abnormality of dentine
Abnormal dentin
Dentin anomaly
Abnormality of dentin

Any abnormality of dentin. [HPO:probinson]


Large lateral palatal ridges
Prominent palatine folds
Large lateral palatal folds
Prominent lateral palatal ridges
Prominent lateral palatal folds

Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge. [PMID:19125428]


Increased bone density of end part of the outermost hand bones

Ivory epiphyses of the distal phalanges of the hand

Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]


Absent innermost bones
Absent proximal phalanges

Aplasia of the proximal phalanges of the hand


Triangular epiphyses of the fingers
Triangular end part of finger bones
Delta-shaped epiphyses of the fingers

Triangular epiphyses of the phalanges of the hand

A triangular appearance of the epiphyses of the phalanges of the fingers of the hand. [HPO:curators]


Stippling of the epiphyses of the phalanges of the hand

Speckled calcifications in end part of finger bones

Stippling of the epiphyses of the fingers

Epiphyseal stippling of finger phalanges

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


Small end part of finger bones
Small epiphyses of the fingers

Small epiphyses of the phalanges of the hand

Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. [HPO:curators]


Pseudoepiphyses of the phalanges of the hand

A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]


Irregular end part of finger bones
Irregular epiphyses of the fingers

Irregular epiphyses of the phalanges of the hand

Irregular radiographic opacity of the epiphyses of the phalanges of the fingers. [HPO:curators]


Fragmentation of end part of finger bones

Fragmentation of the epiphyses of the fingers

Fragmentation of the epiphyses of the phalanges of the hand

Fragmented appearance of the epiphyses of the phalanges of the fingers. [HPO:curators]


Bracket epiphyses of the fingers
Bracket shaped end part of finger bones

Bracket epiphyses of the phalanges of the hand

Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:probinson]


Absent epiphyses of the fingers
Absent end part of fingers

Absent epiphyses of the phalanges of the hand

Absence of one or more epiphyses of the phalanges of the fingers. [HPO:skoehler]


Joint contracture of the hallux
Joint contracture of the big toe

One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively. [HPO:probinson]


Partial/complete duplication of the proximal phalanges of the toes

Partial/complete duplication of a proximal phalanx of toe. [HPO:sdoelken]


Patchy sclerosis of the proximal phalanges of the toes

Uneven increase in bone density in innermost toe bone

Patchy sclerosis of proximal toe phalanx

Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]


Osteolytic defects of the proximal phalanges of the toes

Osteolytic defect of the proximal toe phalanx

Dissolution or degeneration of bone tissue of the proximal toe phalanx. [HPO:probinson]


Curved innermost toe bones
Curved proximal phalanges of the toes

A deviation from the normal straight shape of a proximal phalanx of one or more toes. [HPO:probinson]


Bullet-shaped proximal phalanges of the toes

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


Absent/underdeveloped innermost toe bones

Aplasia/Hypoplasia of the proximal phalanges of the toes

Aplasia/hypoplasia of proximal toe phalanx

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


Partial/complete duplication of the middle phalanges of the toes

Partial/complete duplication of the middle bones of the toes

Partial or complete duplication of a middle phalanx of toe. [HPO:probinson]


Uneven increase in bone density in middle toe bone

Patchy sclerosis of the middle phalanges of the toes

Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:probinson]


Curved middle phalanges of the toes
Curved middle bones of the toes

A deviation from the normal straight form of one or more middle toe phalanges. [HPO:probinson]


Bullet-shaped middle phalanges of the toes

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


Partial/complete duplication of the distal phalanges of the toes

A partial or complete duplication of one or more distal phalanx of toe. [HPO:sdoelken]


Patchy sclerosis of the distal phalanges of the toes

Uneven increase in bone density in outermost toe bone

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


Curved distal phalanges of the toes
Curved outermost bone of the toe

A deviation from the normal straight form of one or more distal toe phalanges. [HPO:probinson]


Bullet-shaped distal phalanges of the toes

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


Absent/hypoplastic terminal phalanges of toes

Absent/underdeveloped outermost bones of toe

Aplasia/Hypoplasia of the distal phalanges of the toes

Absence or underdevelopment of the distal phalanges of the toes. [HPO:probinson]


Abnormality of the proximal phalanges of the toes

A morphological anomaly of one or more proximal phalanges of one or more toes. [HPO:probinson]


Partial/complete duplication of the phalanges of the toes

Partial/complete duplication of one or more phalanx of toe. [HPO:probinson]


Patchy sclerosis of the phalanges of the toes

Uneven increase in bone density in toe bone

Uneven (irregular) increase in bone density of one or more of the phalanges of the foot. [HPO:probinson]


Curved toe bone
Curved phalanges of the toes

A deviation from the normal straight form of one or more toe phalanges. [HPO:probinson]


Bullet-shaped toe bone
Bullet-shaped phalanges of the toes

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


Speckled calcifications in long toe bones

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


The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. [HPO:probinson]


Hypoplastic phalanges of the hallux
Short bone of big toe

Underdevelopment (hypoplasia) of a phalanx of big toe. [HPO:probinson]


Hypoplastic/small distal phalanx of the hallux

Underdevelopment (hypoplasia) of the distal phalanx of big toe. [HPO:probinson]


Complete duplication of the phalanges of the hallux

Complete duplication of one or more phalanx of big toe. [HPO:probinson]


Partial duplication of the outermost bone of big toe

Partial duplication of the distal phalanx of the hallux


Broad proximal phalanx of the big toe
Broad innermost bone of the big toe

Increased width of proximal phalanx of big toe. [HPO:probinson]


Partial/complete duplication of the distal phalanx of the hallux

Duplication of the outermost bone of big toe

Duplication of the distal phalanx of the hallux


Patchy sclerosis of the phalanges of the hallux

Uneven increase in bone density in big toe bone

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


Curved phalanges of the hallux
Curve bones of big toe

A deviation from the normal straight form of one or more phalanges of the big toe. [HPO:probinson]


Bullet-shaped phalanges of the hallux
Bullet-shaped bone of big toe

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


Broad bone of big toe
Broad phalanges of the hallux
Wide bone of big toe

An increase in width in one or more phalanges of the big toe. [HPO:probinson]


Displacement of the hallux
Displacement of big toe

Displacement of the big toe from its normal position. [HPO:curators]


Speckled calcifications in the end part of the first long bone of hand

Stippling of the epiphysis of the 1st metacarpal

Epiphyseal stippling of the first metacarpal

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone. [HPO:probinson]


Partial/complete duplication of the middle phalanges of the hand

Duplication of the middle phalanx of hand

This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]


Partial/complete duplication of the proximal phalanges of the hand

Duplication of the innermost bones of hand

Duplication of the proximal phalanx of hand

This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]


Partial duplication of the outermost bone of the hand

Partial duplication of the distal phalanges of the hand

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:curators]


This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]


Partial duplication of outermost little finger bone

Partial duplication of outermost pinky finger bone

Partial duplication of outermost pinkie finger bone

Bifid terminal phalanx of the 5th finger

Partial duplication of the distal phalanx of the 5th finger

Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]


Partial/complete duplication of the proximal phalanx of the 5th finger

Duplication of the innermost little finger bone

Duplication of the innermost pinkie finger bone

Duplication of the innermost pinky finger bone

Duplication of the proximal phalanx of the 5th finger

Partial or complete duplication of the fifth proximal phalanx of hand. [HPO:probinson]


Duplication of the middle little finger bone

Duplication of the middle pinkie finger bone

Duplication of the middle pinky finger bone

Partial/complete duplication of the middle phalanx of the 5th finger

Duplication of the middle phalanx of the 5th finger

Partial or complete duplication of the fifth middle phalanx of hand. [HPO:probinson]


Duplication of the outermost pinky finger bone

Duplication of the outermost little finger bone

Duplication of the outermost pinkie finger bone

Partial/complete duplication of the distal phalanx of the 5th finger

Duplication of the distal phalanx of the 5th finger

Partial or complete duplication of the distal phalanx of little finger. [HPO:probinson]


Partial/complete duplication of little finger bone

Partial/complete duplication of pinky finger bone

Partial/complete duplication of phalanges of the 5th finger

Partial/complete duplication of pinkie finger bone

This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]


Partial duplication of the outermost bone of the ring finger

Notched outermost bone of the ring finger

Bifid terminal phalanx of the 4th finger

Partial duplication of the distal phalanx of the 4th finger

Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]


Duplication of the proximal bone of the ring finger

Partial/complete duplication of the proximal phalanx of the 4th finger

Duplication of the proximal phalanx of the 4th finger

Partial or complete duplication of the fourth proximal phalanx of hand. [HPO:probinson]


Partial/complete duplication of the middle bone of the ring finger

Partial/complete duplication of the middle phalanx of the 4th finger

Duplication of the middle phalanx of the 4th finger

Partial or complete duplication of the middle phalanx of ring finger. [HPO:probinson]


Partial/complete duplication of the outermost bone of the ring finger

Partial/complete duplication of the distal phalanx of the 4th finger

Duplication of the distal phalanx of the 4th finger

Partial or complete duplication of the distal phalanx of ring finger. [HPO:probinson]


Partial/complete duplication of phalanges of the 4th finger

This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]


Bifid terminal phalanx of the 3rd finger

Notched outermost bone of the middle finger

Partial duplication of the outermost bone of the middle finger

Partial duplication of the distal phalanx of the 3rd finger

Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken]


Duplication of the proximal bone of the middle finger

Partial/complete duplication of the proximal phalanx of the 3rd finger

Duplication of the proximal phalanx of the 3rd finger

Partial or complete duplication of the third proximal phalanx of hand. [HPO:probinson]


Duplication of the middle bone of the middle finger

Partial/complete duplication of the middle phalanx of the 3rd finger

Duplication of the middle phalanx of the 3rd finger

Partial or complete duplication of the middle phalanx of middle finger. [HPO:probinson]


Partial/complete duplication of the outermost bone of the middle finger

Partial/complete duplication of the distal phalanx of the 3rd finger

Duplication of the distal phalanx of the 3rd finger

Partial or complete duplication of the distal phalanx of middle finger. [HPO:probinson]


Partial/complete duplication of phalanges of the 3rd finger

This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]


Notched outermost bone of the index finger

Bifid terminal phalanx of the 2nd finger

Partial duplication of the outermost bone of the 2nd finger

Partial duplication of the distal phalanx of the 2nd finger

Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken, PMID:29864040]


Partial/complete duplication of the middle bone of the index finger

Partial/complete duplication of the middle phalanx of the 2nd finger

Duplication of the middle phalanx of the 2nd finger

Partial or complete duplication of the middle phalanx of index finger. [HPO:probinson]


Partial/complete duplication of the distal phalanx of the 2nd finger

Partial/complete duplication of the outermost bone of the index finger

Duplication of the distal phalanx of the 2nd finger

Partial or complete duplication of the distal phalanx of index finger. [HPO:probinson]


Partial/complete duplication of the proximal phalanx of the 2nd finger

Duplication of the proximal bone of the index finger

Duplication of the proximal phalanx of the 2nd finger

Partial or complete duplication of the second proximal phalanx of hand. [HPO:probinson]


Partial/complete duplication of phalanges of the 2nd finger

Duplication of the bones of index finger

This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:curators]


Complete/partial duplication of phalanges of the thumb

Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:sdoelken]


Missing lower jaw
Absence of lower jaw bones


Accessory nares
Accessory nostril
Supernumerary nostrils
Extra nostril
Supernumerary naris

The presence of more than two nostrils. [PMID:19152422]


The presence of a size difference between the left and right cornea. [HPO:probinson]


Absent middle ear bones
Absent middle ear ossicles

Absence of the middle ear ossicles, malleus, incus, and stapes. [HPO:probinson]


Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. [PMID:19152421]


A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length. [HPO:probinson, PMID:19152421]


Abnormal prominence of the crus of the ear

The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix. [HPO:probinson, PMID:19152421]


Underdeveloped crus of the ear
Hypoplasia of the crus of the ear

Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average. [HPO:probinson, PMID:19152421]


Horizontal orientation of the crus of helix

An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly. [HPO:probinson, PMID:19152421]


An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. [HPO:probinson]


Patchy sclerosis of the proximal phalanges of the hand

Uneven increase in bone density in innermost finger bone

Patchy sclerosis of proximal phalanx of finger

Uneven increase in bone density of the proximal phalanges of the hand. [HPO:probinson]


Uneven increase in bone density in the middle finger bones of the hand

Patchy sclerosis of the middle phalanges of the hand

Patchy sclerosis of middle phalanx of finger

Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand. [HPO:probinson]


Broad middle phalanges of the hand
Broad middle finger bones
Broad middle phalanges of finger

Increased width of the middle phalanx of finger. [HPO:probinson]


Uneven increase in bone density in outermost finger bone

Patchy sclerosis of the distal phalanges of the hand

Patchy sclerosis of distal phalanx of finger

Uneven (irregular) increase in bone density of the distal phalanges of the hand. [HPO:probinson]


Abnormality of the distal phalanx of finger

Abnormality of the outermost finger bone

Abnormality of the distal phalanges of the hand

Abnormal distal phalanx morphology of finger

Any anomaly of distal phalanx of finger. [HPO:probinson]


Abnormality of the elbows
Abnormality of the elbow

An anomaly of the joint that connects the upper and the lower arm. [HPO:probinson]


Abnormality of the joints of the upper limbs


Metaphyseal abnormality of the upper limbs

Abnormality of the wide portion of upper limb bone

An anomaly of one or more metaphyses of the arms. [HPO:probinson]


Diaphyseal abnormality of the upper limbs

Abnormality involving the diaphyses of the upper limbs

Abnormality of shaft of long bone of the upper limbs

A structural abnormality of a diaphysis of the arm. [UToronto:htrang]


Synostosis involving phalanges of the hand

Symphalangism affecting the phalanges of the hand

Fusion of two or more phalangeal bones of the hand. [HPO:curators]


Widening of phalanges of the hand
Wide hand bones

Increased width of the phalanges of the hand. [HPO:curators]


Alveolar synechiae
Fusion of the alveolar ridges

Complete or nearly complete soft tissue fusion of the alveolar ridges. [PMID:19125428]


Developmental hypoplasia of the antihelix. [HPO:probinson]


Abnormal antehelix
Abnormal anthelix
Abnormal antihelix

An abnormality of the antihelix. [HPO:probinson]


Tumours of striated muscle
Tumors of striated muscle

A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle. [HPO:sdoelken]


Symphalangism affecting the 1st metacarpal

First metacarpophalangeal joint synostosis

Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators]


Synostosis involving the metacarpal bones

Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). [HPO:probinson]


Synostosis involving bones of the fingers

An abnormal union between bones or parts of bones of the fingers. The synonymous term symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly." [HPO:sdoelken]


Speckled calcifications in end part of thumb bone

The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb. [HPO:probinson]


Small end part of thumb long bone
Small epiphyses of the thumb

Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms. [HPO:probinson]


Increased bone density of end part of the thumb

Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:probinson]


Irregular epiphyses of the thumb
Irregular end part of thumb long bone

Uneven radiographic opacity of the one or more epiphyses of the thumb. [HPO:probinson]


Fragmentation of the epiphyses of the thumb

Fragmentation of end part of long bone of thumb

Epiphysis of the thumb having multiple bony fragments. [HPO:probinson]


Enlarged end part of thumb long bone
Enlarged epiphyses of the thumb

Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms. [HPO:probinson]


Cone-shaped end part of thumb long bone
Cone-shaped epiphyses of the thumb
Cone-shaped thumb epiphyses

A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. [HPO:probinson]


Enlarged end part of thumb outermost long bone

Enlarged epiphysis of the distal phalanx of the thumb

Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. [HPO:curators]


Cone-shaped terminal thumb phalanx epiphysis

Cone-shaped end part of thumb outermost long bone

Cone-shaped epiphysis of the distal phalanx of the thumb

A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb 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:probinson]


Abnormality of the end part of the outermost bone of the thumb

Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx. [HPO:curators]


Hypoplastic/small phalanges of the thumb

Hypoplastic (short) thumb phalanx. [HPO:probinson]


Triangular shaped phalanges of the thumb

Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle. [HPO:probinson]


Patchy sclerosis of the phalanges of the thumb

Uneven increase in bone density in thumb bone

An uneven increase in bone density of one or more of the phalanges of the thumb. [HPO:probinson]


Curved phalanges of the thumb
Curved thumb bone

A deviation from the normal straight shape of a thumb phalanx. [HPO:probinson]


Bullet-shaped phalanges of the thumb
Bullet-shaped thumb bone

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


Absence of the outermost bone of the thumb

Aplasia of the outermost bone of the thumb

Absent ossification/absent terminal thumb phalanx

Aplasia of the distal phalanx of the thumb

Absence of the distal/terminal phalanx of the thumb. [HPO:curators]


Osteolytic defects of the distal phalanx of the thumb

Osteolytic defects of the outermost bone of the thumb

Osteolytic defect of the distal phalanx of the thumb

Dissolution or degeneration of bone tissue of the distal phalanx of the thumb. [HPO:probinson]


Aplasia of the proximal phalanx of the thumb

Absent ossification/absent proximal thumb phalanx

Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:probinson]


Triangular proximal thumb phalanx
Triangular innermost thumb bone

Triangular shaped proximal phalanx of the thumb. [HPO:probinson]


Osteolytic defects of the proximal phalanx of the thumb

Osteolytic defect of the proximal phalanx of the thumb

Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb. [HPO:probinson]


Abnormal innermost thumb bone
Abnormality of proximal thumb phalanx

Abnormality of the proximal phalanx of the thumb

An anomaly of the shape or form of the proximal phalanx of the thumb. [HPO:curators]


Abnormality of the outermost bone of the thumb

Abnormality of the distal phalanx of the thumb

Any anomaly of the distal phalanx of thumb. [HPO:probinson]


partial duplication of the first metacarpal

Partial duplication of the first metacarpal bone. [HPO:probinson]


Partial/complete duplication of the proximal phalanx of the thumb

Duplication of the proximal phalanx of the thumb

Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:sdoelken]


Duplication of the outermost bone of the thumb

Partial/complete duplication of the distal phalanx of the thumb

Duplication of the distal phalanx of the thumb

Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. [HPO:sdoelken]


Partial/complete duplication of the 1st long bone of hand

Partial/complete duplication of the 1st metacarpal

Partail or complete duplication of the first metacarpal bone. [HPO:probinson]


Complete duplication of outermost bone of the thumb

Complete duplication of distal phalanx of the thumb

Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. [HPO:curators]


Abnormality of thumb phalanges
Abnormality of the thumb bones

A structural anomaly of one or more phalanges of the thumb. [HPO:probinson]


Abnormality of the epiphyses of the thumb

Abnormality of end part of thumb long bone

Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal. [HPO:probinson]


Short proximal phalanx of the second finger

Hypoplastic/small proximal phalanx of the 2nd finger

Short proximal phalanx of the 2nd finger

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


Abnormality of the VIIIth cranial nerve
Abnormality of the eighth cranial nerve

Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain. [HPO:probinson]


Triangular shaped innermost bone of index finger

Triangular proximal index finger phalanx

Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Lytic defects of proximal index finger phalanx

Osteolytic defects of the proximal phalanx of the 2nd finger

Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger. [HPO:curators]


Wide/broad proximal index finger phalanx

Broad proximal phalanx of the 2nd finger

Increased width of the proximal phalanx of the 2nd finger. [HPO:curators]


Hypoplastic/small middle phalanx of the 2nd finger

Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. [HPO:sdoelken]


Aplasia of the middle phalanx of the 2nd finger

Absence of the middle phalanx of the index (2nd) finger. [HPO:curators]


Lytic defects of middle index finger phalanx

Osteolytic defects of the middle phalanx of the 2nd finger

Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger. [HPO:curators]


Hypoplastic terminal index finger phalanx

Short distal phalanx of the second finger

Short outermost bone of the index finger

Hypoplastic/small distal phalanx of the 2nd finger

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


Absent outermost index finger bone
Absent terminal index finger phalanx

Aplasia of the distal phalanx of the 2nd finger


Fused outermost and middle index finger bones

Symphalangism of the distal and middle phalanges of the 2nd finger

Distal/middle symphalangism of 2nd finger

Fusion of the terminal/distal and middle phalanges of the 2nd finger. [HPO:curators]


Acro-osteolysis of terminal index finger phalanx

Osteolytic defects of the outermost bone of the 2nd finger

Osteolytic defects of the distal phalanx of the 2nd finger

Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger. [HPO:curators]


Uneven increase in bone density in index finger bone

Patchy sclerosis of the phalanges of the 2nd finger

Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger. [HPO:probinson]


Osteolytic defects of the phalanges of the 2nd finger


Wide index finger bones
Wide/broad index finger phalanges


Triangular bones of index finger
Triangular index finger phalanges

Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Fused index finger bones
Symphalangism of index finger phalanges


Abnormality of the proximal 2nd finger phalanx

Abnormality of the proximal phalanx of the 2nd finger


Abnormality of middle 2nd finger phalanx

Abnormality of the middle phalanx of the 2nd finger


Abnormality of the outermost bone of the 2nd finger

Abnormality of terminal index finger phalanx

Abnormality of the distal phalanx of the 2nd finger


Abnormal index finger bones
Abnormality of 2nd finger phalanges

Abnormality of the phalanges of the 2nd finger

Abnormality of the phalanges of the 2nd (index) finger. [HPO:curators]


Camptodactyly of second finger
Camptodactyly of index finger
Camptodactyly of 2nd finger

Contracture of the proximal interphalangeal joint of the 2nd finger

Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. [HPO:probinson]


Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected. [HPO:curators]


Aplasia of the index finger
Absent index finger
Absent index finger phalanges

Absent 2nd (index) finger. [HPO:curators]


Triangular epiphysis of proximal index finger phalanx

Triangular end part of innermost long bone of index finger

Triangular epiphysis of the proximal phalanx of the 2nd finger


Enlarged end part of innermost long bone of index finger

Large epiphysis of proximal index finger phalanx

Enlarged epiphysis of the proximal phalanx of the 2nd finger


Cone-shaped epiphysis of proximal index finger phalanx

Cone-shaped end part of innermost long bone of index finger

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


Bracket epiphyses of proximal index finger phalanx

Bracket shaped end part of innermost long bone of index finger

Bracket epiphysis of the proximal phalanx of the 2nd finger

An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


Cone-shaped epiphyses of middle phalanx of index finger

Cone-shaped end part of the middle long bone of the index finger

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


Missing end part of the middle long bone of the index finger

Absent epiphyses of middle phalanx of index finger

Absent epiphysis of the middle phalanx of the 2nd finger


Ivory epiphysis of terminal index finger phalanx

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

Ivory epiphysis of the distal phalanx of the 2nd finger

Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]


Absent ossification/absent epiphysis of terminal index finger phalanx

Absent end part of the outermost bone of the index finger

Absent epiphysis of the distal phalanx of the 2nd finger

Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger. [HPO:curators]


Epiphyseal abnormality of the proximal phalanx of the 2nd finger

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


Epiphyseal abnormality of middle phalanx of the 2nd finger

Abnormality of end part of the middle bone of the index finger

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


Epiphyseal abnormality of terminal index finger phalanx

Abnormality of the end part of the outermost bone of the index finger

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


A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]


Bracket shaped end part of index finger
Bracket-epiphyses of index finger

An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


Camptodactyly of the 3rd finger
Camptodactyly of the third finger

Contracture of the proximal interphalangeal joint of the 3rd finger

Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. [HPO:curators]


Displaced index finger
Deviated index finger

Displacement of the 2nd finger from its normal position. [HPO:curators]


Short middle finger
Hypoplastic/small 3rd finger
Short 3rd finger

Hypoplastic/small 3rd (middle) finger. [HPO:sdoelken]


Short proximal phalanx of the third finger

Hypoplastic/small proximal phalanx of the 3rd finger

Short proximal phalanx of the 3rd finger

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


Uneven increase in bone density in middle finger bone

Patchy sclerosis of middle finger phalanges

Patchy sclerosis of the phalanges of the 3rd finger

Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger. [HPO:probinson]


Lytic defects of middle finger phalanges

Osteolytic defects of the phalanges of the 3rd finger

Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger. [HPO:curators]


Wide bones of middle finger
Wide/broad middle finger phalanges

Increased width of the phalanges of the 3rd finger. [HPO:curators]


Hypoplastic/small middle phalanx of the 3rd finger

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


Aplasia of the middle phalanx of the 3rd finger

Absence of the middle phalanx of the middle (3rd) finger. [HPO:sdoelken]


Wide/broad middle phalanx of middle-finger

Increased width of the middle phalanx of the 3rd finger. [HPO:curators]


Symphalangism of the distal and middle phalanges of the 3rd finger

Fused outermost and middle bones of middle finger

Distal/middle symphalangism of 3rd finger

Fusion of the terminal/distal and middle phalanges of the 3rd finger. [HPO:curators]


Lytic defect of terminal phalanx of middle finger

Osteolytic defects of the distal phalanx of the 3rd finger

Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger. [HPO:curators]


Delta-shaped epiphyses of the 3rd finger

Triangular end part of middle finger bone

A triangular appearance of the epiphyses of the 3rd finger of the hand. [HPO:curators]


Pseudoepiphyses of middle finger phalanges

A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]


Patchy sclerosis of the phalanges of the 4th finger

Uneven increase in bone density in ring finger bone

Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger. [HPO:probinson]


Delta-shaped epiphyses of the 4th finger

A triangular appearance of the epiphyses of the 4th finger of the hand. [HPO:curators]


Triangular end part of the pinkie finger

Triangular end part of the little finger

Delta-shaped epiphyses of the 5th finger

A triangular appearance of the epiphyses of the 5th finger of the hand. [HPO:curators]


Patchy sclerosis of the phalanges of the 5th finger

Uneven increase in bone density in little finger bone

Uneven increase in bone density in pinkie finger bone

Uneven increase in bone density in pinky finger bone

Uneven increase in bone density of one or more of the phalanges of the 5th finger. [HPO:probinson]


Abnormal innermost bone of middle finger

Abnormality of proximal middle-finger phalanx

Abnormality of the proximal phalanx of the 3rd finger


Abnormality of terminal phalanx of middle-finger

Abnormality of the outermost bone of the 3rd finger

Abnormality of the distal phalanx of the 3rd finger


Delta-shaped epiphysis of the proximal phalanx of the 3rd finger

Triangular end part of innermost long bone of the middle finger

Triangular epiphysis of the proximal phalanx of the 3rd finger

A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]


Enlarged end part of innermost long bone of the middle finger

Large epiphysis of proximal middle-finger phalanx

Enlarged epiphysis of the proximal phalanx of the 3rd finger

Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. [HPO:curators]


Delta-shaped epiphysis of the distal phalanx of the 3rd finger

Triangular end part of the outermost long bone of the middle finger

Triangular epiphysis of the distal phalanx of the 3rd finger

A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]


Triangular end part of the middle bone of the middle finger

Delta-shaped epiphysis of the middle phalanx of the 3rd finger

Triangular epiphysis of the middle phalanx of the 3rd finger

A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]


Pseudoepiphyses of middle phalanx of middle-finger

Pseudoepiphysis of the middle phalanx of the 3rd finger

A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]


Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected. [HPO:probinson]


Displacement of the 3rd finger from its normal position. [HPO:curators]


Abnormality of the phalanges of the 3rd finger

Abnormality of the phalanges of the 3rd (middle) finger. [HPO:curators]


Fused outermost and middle bones of ring finger

Symphalangism of the distal and middle phalanges of the 4th finger

Distal/middle symphalangism of 4th finger

Fusion of the terminal/distal and middle phalanges of the 4th finger. [HPO:curators]


Short proximal phalanx of the fourth finger

Hypoplastic/small proximal phalanx of the 4th finger

Short proximal phalanx of the 4th finger

Hypoplastic/small proximal phalanx of the fourth finger. [HPO:sdoelken]


Hypoplastic/small middle phalanx of ring finger

Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger. [HPO:sdoelken]


Aplasia of the middle phalanx of the 4th finger

Absence of the middle phalanx of the ring (4th) finger. [HPO:curators]


Short distal phalanx of the fourth finger

Hypoplastic/small distal phalanx of the 4th finger

Hypoplastic/small distal phalanx of the fourth finger. [HPO:sdoelken]


Abnormality of the proximal phalanx of the ring finger

Abnormality of the proximal phalanx of the 4th finger


Abnormality of the middle phalanx of the ring finger

Abnormality of the middle phalanx of the 4th finger


Hypoplastic/small 4th finger
Short ring finger

Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger. [HPO:sdoelken]


Camptodactyly of the 4th finger
Camptodactyly of the ring finger
4th finger camptodactyly

Contracture of the proximal interphalangeal joint of the 4th finger

Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. [HPO:probinson]


Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected. [HPO:probinson]


Triangular end part of the innermost bone of ring finger

Delta-shaped epiphysis of the proximal phalanx of the 4th finger

Triangular epiphysis of the proximal phalanx of the 4th finger

A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]


Bracket proximal epiphysis of the ring finger

Bracket shaped end part of the innermost bone of the ring finger

Bracket epiphysis of the proximal phalanx of the 4th finger

An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. [HPO:curators]


Delta-shaped epiphysis of the distal phalanx of the 4th finger

Triangular end part of the outermost bone of ring finger

Triangular epiphysis of the distal phalanx of the 4th finger

A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]


Broad innermost pinky finger bone
Broad innermost little finger bone
Broad innermost pinkie finger bone
Wide proximal phalanx of the 5th finger

Broad proximal phalanx of the 5th finger

Increased width of the proximal phalanx of the 5th finger. [HPO:curators]


Short proximal phalanx of the fifth finger

Hypoplastic/small proximal phalanx of the 5th finger

Short proximal phalanx of the 5th finger

Hypoplastic/small proximal phalanx of the fifth finger. [HPO:skoehler]


Triangular end part of the middle bone of the ring finger

Delta-shaped epiphysis of the middle phalanx of the 4th finger

Triangular epiphysis of the middle phalanx of the 4th finger

A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]


Triangular end part of the middle bone of the little finger

Triangular end part of the middle bone of the pinky finger

Triangular end part of the middle bone of the pinkie finger

Delta-shaped epiphysis of the middle phalanx of the 5th finger

Triangular epiphysis of the middle phalanx of the 5th finger

A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]


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

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

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

Abnormality of the epiphysis of the terminal phalanx of the little finger

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

Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. [HPO:curators]


Absent end part of the long bone of hand

Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals. [HPO:curators]


Speckled calcifications in end part of the long bone of hand

Stippling of the epiphyses of the metacarpals

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


Laterally displaced fifth finger
Displaced pinkie finger
Displaced pinky finger
Displaced little finger

Displacement of the 5th finger from its normal position. [HPO:sdoelken]


Abnormality of the phalanges of the ring finger

Abnormality of the phalanges of the 4th (ring) finger. [HPO:curators]


Broad middle bone of pinkie finger
Broad middle bone of little finger
Wide middle phalanx of the 5th finger
Broad middle bone of pinky finger

Increased width of the middle phalanx of the 5th finger. [HPO:curators]


Triangular end part of the innermost bone of little finger

Triangular end part of the innermost bone of pinky finger

Delta-shaped epiphysis of the proximal phalanx of the 5th finger

Triangular end part of the innermost bone of pinkie finger

Triangular epiphysis of the proximal phalanx of the 5th finger

A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]


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

Triangular end part of the outermost bone of little finger

Triangular end part of the outermost bone of pinky finger

Triangular end part of the outermost bone of pinkie finger

Triangular epiphysis of the distal phalanx of the 5th finger

A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. [HPO:curators]


Abnormality of the cerebral arteries
Abnormality of cerebral artery

Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. [HPO:probinson]


Depletion of mitochondrial dna in skeletal muscle tissue

Depletion of mitochondrial DNA in muscle tissue


Abnormality of bone mineral density involving tarsal bones

This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. [HPO:probinson]


Muscular atrophy involving the muscles of the upper limbs. [HPO:probinson]


Abnormality of fat tissue
Abnormality of fatty tissue
Abnormality of adipose tissue

An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. [HPO:curators]


Abnormal ossification involving the bones of the pelvis

An abnormality of the formation and mineralization of any bone of the bony pelvis. [HPO:probinson]


Rhabdomyolysis induced by exercise. [HPO:probinson]


Decreased strength of the abdominal musculature. [HPO:probinson]


Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle. [HPO:probinson]


Hypoplastic/aplastic middle ear structures

Aplasia or developmental hypoplasia of all or part of the middle ear. [HPO:probinson]


Vocal impairment, severe, due to laryngeal cartilage abnormalities

A malformation of the laryngeal cartilage. [HPO:probinson]


Abnormal enlargement of the urinary bladder. [HPO:probinson]


An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. [HPO:probinson]


Severe sensorineural deafness
Severe sensorineural hearing loss

A severe form of sensorineural hearing impairment. [HPO:probinson]


Sensorineural deafness, late-onset
Late sensorineural hearing loss

Adult onset sensorineural hearing impairment

The presence of sensorineural deafness with late onset. [HPO:probinson]


Infantile sensorineural hearing impairment

A form of sensorineural hearing impairment with infantile onset. [HPO:probinson]


A mild form of conductive hearing impairment. [HPO:probinson]


Congenital conductive hearing impairment

A type of conductive deafness with congenital onset. [HPO:probinson]


The presence of a mild form of sensorineural hearing impairment. [HPO:probinson]


Helix, posterior pit
Indentation in back of outer ear
Ear, posterior helical groove
Pits in posterior aspect of ear helices
Ear, posterior helical notch

Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated. [PMID:19152421]


Reduced anterior-posterior diameter of vertebral bodies

Narrow anterio-posterior vertebral body diameter

An abnormal reduction of the anterioposterior diameter of the vertebral body. [HPO:probinson]


Anterior tongue-like protrusion of lumbar vertebral bodies

Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. [HPO:probinson]


Recurrent shedding of toenails and fingernails

Recurrent loss of toenails and fingernails

Repeated loss, or shedding, of the nails of the fingers and toes. [DDD:cmoss]


Abnormal maturation of long bone of foot

Abnormal ossification involving metatarsal bones

Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years. [HPO:probinson]


Abnormal ossification of tarsal bones
Hardening of ankle bones

An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. [HPO:probinson]


Reduced IgG2 levels
Decreased IgG2 level in blood
Immunoglobulin IgG2 deficiency

A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation. [HPO:probinson]


An abnormality of the mitochondria in muscle tissue. [HPO:probinson]


The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies. [HPO:probinson]


ACTH receptor defect
ACTHR defect
Adrenocorticotropin receptor defect

Adrenal insufficiency secondary to a defect in the ACTH receptor. [DDD:spark]

Adrenocorticotropic hormone-resistant adrenal insufficiency


An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease. [eMedicine:118562, HPO:probinson]


Elevated plasma follicle stimulating hormone

Increased circulating follicle stimulating hormone level

Elevated circulating follicle stimulating hormone level

An elevated concentration of follicle-stimulating hormone in the blood. [HPO:probinson]


No secondary sexual characteristics at puberty

Absence of secondary sex characteristics

No secondary sexual characteristics are present at puberty. [HPO:probinson]


An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. [HPO:probinson]


Episodes of muscle weakness associated with reduced levels of potassium in the blood. [HPO:probinson]


Irregular tarsal centres
Irregular tarsal centers

Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. [HPO:probinson]


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


Osteolysis affecting the talus. [HPO:sdoelken]


Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery). [ORCID:0000-0003-0986-4123, PMID:9734800]


A type of sutural cataract in which the opacity follows the posterior Y suture. [HPO:probinson]


Reduced amplitude of dark-adapted bright flash electroretinogram b-wave

Electroretinogram: reduced b-wave amplitude

A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3). [HPO:probinson]


Failure of attachment of the retina during development. [HPO:probinson, PMID:21441919]


Hypoplasia of the lacrimal puncta
Hypoplastic lacrimal puncta

Underdevelopment of the lacrimal puncta. [HPO:probinson]


Punctate opacification (reduced transparency) of the corneal stroma. [DDD:gblack]


A kind of cataract that progresses with age. [HPO:probinson]


The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone. [HPO:probinson]


A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens. [HPO:probinson]


Central retinal vessel vascular tortuosity

The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules). [HPO:probinson]


Absent rod-and cone-mediated responses on ERG

Absent cone and rod functions by electroretinogram

Undetectable light- and dark-adapted electroretinogram

Absence of the combined rod-and-cone response on electroretinogram. [HPO:probinson]


An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude. [HPO:probinson, PMID:3625219]


Decreased sweat glands
Decreased sweat pores

The presence of fewer than normal sweat glands. [HPO:probinson]


A type of ichthyosiform erythroderma with postnatal onset. [HPO:probinson]


Abnormality of somatosensory evoked potentials

An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. [HPO:curators]


An abnormality characterized by chronic impairment of the normal functioning of the axons. [HPO:probinson]


Progressive extrapyramidal muscular rigidity

A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). [HPO:probinson]


Muscular atrophy of distal arm muscles. [HPO:probinson]


Peripheral sensory neuropathy affecting primarily distal sensation. [HPO:probinson]


Decreased touch sensation in extremities

A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. [HPO:probinson]


Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. [HPO:probinson]


A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints. [HPO:probinson]


Chest wall pain in the area of the costochondral junctions. [HPO:probinson]


Abnormal increase in density of the tissue at the costochondral junctions. [HPO:probinson]


Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. [HPO:probinson]


Prematurely closed sternal sutures. [HPO:probinson, PMID:13542801]


Reduced number of intrahepatic bile ducts

The presence of reduced numbers of intrahepatic bile duct than normal. [HPO:probinson]


Primary pulmonary dysgenesis, unilateral


Abnormal shape of end part of limb bones

Abnormality involving the epiphyses of the limbs

Abnormality of limb epiphysis morphology

An anomaly of one or more epiphyses of a limb. []


Abnormality involving the epiphyses of the lower limbs

Abnormal shape of end part of lower limb end bone

Abnormality of lower limb epiphysis morphology

An anomaly of one or more epiphyses of one or both legs. []


Abnormality of milk teeth
Abnormality of baby teeth
Abnormality of deciduous teeth

Any abnormality of the primary tooth. [HPO:ibailleulforestier]


Formation of bone in the patella later than normal. [HPO:probinson, PMID:6729496]


Bowing of the distal tibia
Tibial bowing at ankle

A bending or abnormal curvature of the distal portion of the tibia. [HPO:probinson]


Flattened distal femoral epiphyses
Flat end part of outermost thighbone

An abnormal flattening of the distal epiphysis of femur. [HPO:sdoelken]


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


Precocious eruption of secondary dentition

Premature tooth eruption of the permanent dentition. [HPO:ibailleulforestier]


Crowded upper incisors
Overlapped upper front teeth
Overlapped maxillary incisors
Crowded upper front teeth

A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor. [HPO:ibailleulforestier]


Widely spaced milk teeth
Widely spaced deciduous teeth
Wide gaps between baby teeth
Widely spaced baby teeth
Generalised spacing of primary teeth
Generalized spacing of primary teeth
Wide gaps between primary teeth

Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. [HPO:ibailleulforestier]


Abnormality of phalangeal joints of the hand

Abnormality of the small joints of the hand

Abnormal phalangeal joint morphology of the hand


Shortening of all the middle bones of the toes

Shortening of all middle phalanges of the toes

Abnormal shortening of all middle phalanges of toes. [HPO:probinson]


Interdigital finger polydactyly
Central hand polydactyly

The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. [HPO:probinson]


Proximal interphalangeal joint synostoses

The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. [HPO:sdoelken]


Shortening of all outermost bones of the fingers

Shortening of all distal phalanges of the fingers

Hypoplasia of all of the distal phalanx of finger. [HPO:probinson]


Delayed bone maturation of end part of digital bone

Delayed phalangeal epiphyseal bone maturation

Delayed phalangeal epiphyseal ossification

Delay in the process of formation and maturation of the epiphysis of one or more phalanx. [HPO:probinson]


Bilateral lung agenesis
Bilateral pulmonary agenesis

Bilateral lack of development of the lungs. [HPO:probinson]


Abnormal shape of end part of bone
Abnormality of the epiphyses
Anomaly of the epiphyses
Epiphyseal abnormality

An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. [HPO:probinson]


Absent/underdeveloped hand bones
Hypoplasia/absence of hand bones
Absent/small hand bones

Aplasia/hypoplasia involving bones of the hand

Absence (due to failure to form) or underdevelopment of the bones of the hand. [HPO:probinson]


Abnormal epiphysis morphology of the phalanges of the hand

Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). [HPO:curators]


Abnormality of the phalanges of the hand

Abnormalities affecting the phalanx of finger. [HPO:probinson]


Abnormal shape of metacarpal bones
Abnormal shape of long bones of hand

Irregularly shaped metacarpal bones of varying degree. [HPO:curators]


Rhomboid or triangular shaped fifth finger middle phalanx

Rhomboid or triangular shaped 5th finger middle phalanx

Rhomboid or triangular shaped 5th (little) finger middle phalanx. [HPO:curators]


Delayed pneumatization of the mastoid process

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


Polysyndactyly of great toe
Polysyndactyly of big toe

Combined syndactyly and polydactyly of the great toe. [HPO:probinson]


A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction. [HPO:probinson]


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


No fourth finger distal interphalangeal crease

Absent fourth finger distal interphalangeal crease

Absence of the distal interphalangeal flexion creases of the fourth finger. [HPO:probinson]


Soft tissue syndactyly of toes 2, 3, and 4

A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4. [HPO:probinson]


Speckled calcifications in bone end parts in neonates

The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. [HPO:probinson]


An increase in bone density affecting the basicranium (base of the skull). [HPO:probinson]


Spinal stenosis with reduced interpedicular distance

An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging). [HPO:probinson]


A bilateral form of triphalangeal thumb. [HPO:probinson]


Brachydactyly of third toes
Short 3rd toe
Short third toe

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


Absent bone maturation of skullcap
Absent ossification of skull vault

Absent ossification of the calvaria (vault of the skull). [HPO:probinson]


Widened long bones
Broad long bones
Wide long bones

Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. [HPO:probinson]


Facial telangiectasia in butterfly midface distribution

Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution. [HPO:curators]


Patchy palmoplantar keratoderma
Palmoplantar keratoderma, patchy

A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected. [HPO:probinson]


Abnormality of bone marrow cell morphology

An anomaly of the form or number of cells in the bone marrow. [DDD:wouwehand, HPO:probinson]


Distorted red blood cells resembling keratocytes

A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns. [HPO:probinson]


A reduced level of the complement component factor B in circulation. [https://emedicine.medscape.com/article/135478-overview]


Deformity of the nostrils
Deformity of the nares
Malformation of the nares
Anomaly of the nares
Malformation of the nostrils
Abnormality of the nostrils

Abnormality of the nostril. [HPO:curators]


Ageneis of nasal septal cartilage
Absent nasal septum
Absent nasal septal cartilage

Lack of the cartilage of the nasal septum. [HPO:probinson]


Unilateral aplasia of pectoralis major muscle

Unilateral absence of pectoralis major muscle

Aplasia (congenital absence) of the pectoralis minor on only one side of the chest. [HPO:probinson]


Hypoplastic intestines
Underdeveloped instestine

Developmental hypoplasia of the intestine. [HPO:probinson]


Intrinsic factor absent from gastric juice

Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. [HPO:probinson]


Abnormality of the calcaneal tendon
Abnormality of the Achilles tendon

An abnormality of the Achilles tendon. [HPO:probinson]


An impairment of galactose metabolism. [HPO:probinson]


Recurrent low blood sugar in infant
Episodic infantile hypoglycemia

Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period. [HPO:probinson]


Protracted bleeding after surgery
Excessive bleeding during surgery
Prolonged bleeding after surgery

Bleeding that persists longer than the normal time following a surgical procedure. [HPO:probinson]


Increased haemoglobin oxygen affinity
Increased Hb oxygen affinity
Increased haemoglobin O2 affinity
Increased hemoglobin O2 affinity
Increased Hb O2 affinity

An abnormal increase in the binding affinity of hemoglobin for oxygen. [HPO:probinson]


Hemolytic anaemia following ingestion of fava beans

Hemolytic anemia following ingestion of fava beans

A kind of hemolytic anemia that is induced by the ingestion of fava beans. [HPO:probinson]


Hypoplasia of the fifth metatarsal bone
Short 5th long bone of foot

Short (hypoplastic) fifth metatarsal bone. [HPO:probinson]


Short 3rd long bone of foot
Hypoplasia of the 3rd metatarsal bone

Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone. [HPO:probinson]


Deficiency of nasal bone
Underdevelopment of nasal bone
Hypotrophic nasal bone
Small nasal bone
Decreased size of nasal bone
Nasal bone hypoplasia

Underdevelopment of the nasal bone. [HPO:probinson]


Anterior wedging of the 11th thoracic vertebra

An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front). [HPO:probinson]


Generalised hypotrichosis
Hypotrichosis, generalised
Hypotrichosis, generalized

Reduced or lacking hair growth in a generalized distribution. [HPO:probinson]


Abnormal sense of smell
Abnormality of the sense of smell
Smell defect
Abnormality of olfaction

An anomaly in the ability to perceive and distinguish scents (odors). []


Abnormal circulating fatty-acid concentration

A deviation from the normal concentration of a fatty acid in the blood circulation. [HPO:probinson]


Abnormality of bone mineralisation and ossification

This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. [HPO:probinson]