Speckled calcifications in end part of the innermost bone of ring finger

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

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


Small end part of the innermost bone of the ring finger

Small epiphysis of the proximal phalanx of the 4th finger

Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. [HPO:curators]


Pseudoepiphysis of the proximal phalanx of the 4th finger

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


Increased bone density of end part of the innermost ring finger bone

Ivory epiphysis of the proximal phalanx of the 4th finger

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


Irregular end part of the innermost bone of the ring finger

Irregular epiphysis of the proximal phalanx of the 4th finger

Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger. [HPO:curators]


Fragmentation of end part of the innermost bone of the ring finger

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

Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger. [HPO:curators]


Enlarged end part of the innermost bone of the ring finger

Enlarged epiphysis of the proximal phalanx of the 4th finger

Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. [HPO:curators]


Cone-shaped end part of the innermost bone of the ring finger

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

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


Absent end part of the innermost bone of the ring finger

Absent epiphysis of the proximal phalanx of the 4th finger

Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger. [HPO:curators]


Speckled calcifications in the end part of the outermost bone of the ring finger

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

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


Small end part of the outermost bone of the ring finger

Small epiphysis of the distal phalanx of the 4th finger

Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. [HPO:curators]


Pseudoepiphysis of the distal phalanx of the 4th finger

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


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

Ivory epiphysis of the distal phalanx of the 4th finger

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


Irregular end part of the outermost bone of the ring finger

Irregular epiphysis of the distal phalanx of the 4th finger

Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger. [HPO:curators]


Fragmentation of end part of the outermost bone of the ring finger

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

Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger. [HPO:curators]


Enlarged end part of the outermost bone of the ring finger

Enlarged epiphysis of the distal phalanx of the 4th finger

Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. [HPO:curators]


Cone-shaped end part of the outermost bone of the ring finger

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

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


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

Bracket epiphysis of the distal phalanx of the 4th finger

An abnormality of the distal 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]


Absent end part of the outermost bone of the ring finger

Absent epiphysis of the distal phalanx of the 4th finger

Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger. [HPO:curators]


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

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


Abnormality of the end part of the innermost bone of the ring finger

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


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

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


Absent outermost little finger bone
Absent outermost pinky finger bone
Absent outermost pinkie finger bone

Aplasia of the distal phalanx of the 5th finger

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


Triangular shaped outermost pinky finger bone

Triangular shaped outermost pinkie finger bone

Triangular shaped outermost little finger bone

Triangular shaped distal phalanx of the 5th finger

Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Uneven increase in bone density in the outermost bone of little finger

Uneven increase in bone density in the outermost bone of pinkie finger

Uneven increase in bone density in the outermost bone of pinky finger

Patchy sclerosis of the distal phalanx of the 5th finger

Patchy increase in bone density of the distal phalanx of the 5th finger. [HPO:curators]


Osteolytic defects of the distal phalanx of the 5th finger

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


Bullet-shaped outermost little finger bone

Bullet-shaped outermost pinky finger bone

Bullet-shaped outermost pinkie finger bone

Bullet-shaped distal phalanx of the 5th finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected. [HPO:curators]


Wide outermost pinky finger bone
Broad outermost pinkie finger bone
Broad outermost pinky finger bone
Broad outermost little finger bone

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


Absent/underdeveloped outermost bone of pinky finger

Absent/small outermost bone of pinkie finger

Absent/small outermost bone of little finger

Absent/small outermost bone of pinky finger

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


Absent pinkie finger
Absent little finger
Absent pinky finger

Absent 5th (little) finger. [HPO:curators]


Rhomboid or triangular shaped innermost bone of pinky finger

Rhomboid or triangular shaped innermost bone of little finger

Rhomboid or triangular shaped innermost bone of pinkie finger

Rhomboid or triangular shaped 5th finger proximal phalanx

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


Fused innermost bone of pinkie finger with 5th long bone of hand

Fused innermost bone of pinky finger with 5th long bone of hand

Fused innermost bone of little finger with 5th long bone of hand

Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal

Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal. [HPO:curators]


Triangular shaped innermost little finger bone

Triangular shaped innermost pinky finger bone

Triangular shaped innermost pinkie finger bone

Triangular shaped proximal phalanx of the 5th finger

Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Fused innermost bone of pinkie finger
Fused innermost bone of pinky finger
Fused innermost bone of little finger

Symphalangism affecting the proximal phalanx of the 5th finger

Fusion of the proximal phalanx of the 5th finger with another bone. [HPO:curators]


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

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

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

Patchy sclerosis of the proximal phalanx of the 5th finger

Patchy increase in bone density of the proximal phalanx of the 5th finger. [HPO:curators]


Osteolytic defects of the proximal phalanx of the 5th finger

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


Curved innermost bone of pinkie finger
Curved innermost bone of little finger
Curved innermost bone of pinky finger

Curved proximal phalanx of the 5th finger

Curved appearance of the proximal phalanx of the 5th finger. [HPO:curators]


Bullet-shaped innermost pinky finger bone

Bullet-shaped innermost little finger bone

Bullet-shaped innermost pinkie finger bone

Bullet-shaped proximal phalanx of the 5th finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected. [HPO:curators]


Absent innermost bone of little finger
Absent innermost bone of pinky finger
Absent innermost bone of pinkie finger

Aplasia of the proximal phalanx of the 5th finger

Absence of the proximal phalanx of the little (5th) finger. [HPO:curators]


Speckled calcifications in end part of the middle bone of the ring finger

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

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


Small end part of the middle bone of the ring finger

Small epiphysis of the middle phalanx of the 4th finger

Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. [HPO:curators]


Pseudoepiphysis of the middle phalanx of the 4th finger

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


Increased bone density of end part of the middle ring finger bone

Ivory epiphysis of the middle phalanx of the 4th finger

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


Irregular end part of the middle bone of the ring finger

Irregular epiphysis of the middle phalanx of the 4th finger

Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger. [HPO:curators]


Fragmentation of end part of the middle bone of the ring finger

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

Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger. [HPO:curators]


Enlarged end part of the middle bone of the ring finger

Enlarged epiphysis of the middle phalanx of the 4th finger

Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. [HPO:curators]


Cone-shaped end part of the middle bone of the ring finger

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

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


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

Bracket epiphysis of the middle phalanx of the 4th finger

An abnormality of the middle 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]


Absent end part of the middle bone of the ring finger

Absent epiphysis of the middle phalanx of the 4th finger

Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger. [HPO:curators]


Speckled calcifications in end part of the middle bone of the little finger

Speckled calcifications in end part of the middle bone of the pinky finger

Speckled calcifications in end part of the middle bone of the pinkie finger

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

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


Small end part of the middle bone of the little finger

Small end part of the middle bone of the pinky finger

Small end part of the middle bone of the pinkie finger

Small epiphysis of the middle phalanx of the 5th finger

Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. [HPO:curators]


Pseudoepiphysis of the middle phalanx of the 5th finger

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


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

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

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

Ivory epiphysis of the middle phalanx of the 5th finger

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


Irregular end part of the middle bone of the pinky finger

Irregular end part of the middle bone of the little finger

Irregular end part of the middle bone of the pinkie finger

Irregular epiphysis of the middle phalanx of the 5th finger

Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger. [HPO:curators]


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

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

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

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

Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger. [HPO:curators]


Enlarged end part of the middle bone of the pinkie finger

Enlarged end part of the middle bone of the little finger

Enlarged end part of the middle bone of the pinky finger

Enlarged epiphysis of the middle phalanx of the 5th finger

Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. [HPO:curators]


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

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

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

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

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


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

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

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

Bracket epiphysis of the middle phalanx of the 5th finger

An abnormality of the middle phalanx of the fifth 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]


Absent end part of the middle bone of the pinkie finger

Absent end part of the middle bone of the pinky finger

Absent end part of the middle bone of the little finger

Absent epiphysis of the middle phalanx of the 5th finger

Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger. [HPO:curators]


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

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

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

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

Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger. [HPO:curators]


Speckled calcifications in end part of the innnermost bone of the pinkie finger

Speckled calcifications in end part of the innnermost bone of the pinky finger

Speckled calcifications in end part of the innnermost bone of the little finger

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

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


Pseudoepiphysis of the proximal phalanx of the 5th finger

A secondary ossification center in the proximal phalanx of the fifth finger 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 the innermost little finger bone

Irregular end part of the innermost pinky finger bone

Irregular end part of the innermost pinkie finger bone

Irregular epiphysis of the proximal phalanx of the 5th finger

Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger. [HPO:curators]


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

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

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

Bracket epiphysis of the proximal phalanx of the 5th finger

An abnormality of the proximal phalanx of the fifth 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]


Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms. [HPO:curators]


Absent/small innermost pinky finger bone

Absent/small innermost pinkie finger bone

Absent/underdeveloped innermost pinky finger bone

Absent/small innermost little finger bone

Aplasia/Hypoplasia of the proximal phalanx of the 5th finger

Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger. [HPO:curators]


Increased bone density of end part of the long bone of hands

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


Irregular end part of the long bone of hand

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


Fragmentation of end part of the long bone of hand

Fragmentation of the metacarpal epiphyses

Fragmented appearance of the epiphyses of the metacarpals. [HPO:curators]


Pseudoepiphysis of the distal phalanx of the 5th finger

A secondary ossification center in the distal phalanx of the fifth 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 the outermost pinkie finger bone

Bracket shaped end part of the outermost little finger bone

Bracket shaped end part of the outermost pinky finger bone

Bracket epiphysis of the distal phalanx of the 5th finger

An abnormality of the distal phalanx of the fifth 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]


Contracture of the metacarpophalangeal joint of the 5th finger

Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue. [HPO:curator]


Contracture of the distal interphalangeal joint of the 5th finger

Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue. [HPO:probinson]


Triangular shaped middle pinkie finger bone

Triangular shaped middle pinky finger bone

Triangular shaped middle little finger bone

Triangular shaped middle phalanx of the 5th finger

Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators]


Displacement of the 5th finger towards the ulnar side. [HPO:sdoelken]


Fused middle bones of pinkie finger
Fused middle bones of pinky finger
Fused middle bones of little finger

Symphalangism of middle phalanx of 5th finger

Fusion of the middle phalanx of the 5th finger with another bone. [HPO:curator]


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

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

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

Patchy sclerosis of the middle phalanx of the 5th finger

Patchy increase in bone density of the middle phalanx of the 5th finger. [HPO:curators]


Abnormality of the end part of the ring finger

Abnormality of the epiphyses of the 4th finger

Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger. [HPO:curators]


Curved middle bone of pinkie finger
Curved middle bone of little finger
Curved middle bone of pinky finger

Curved appearance of the middle phalanx of the 5th finger. [HPO:curators]


Triangular end part of the long bone of hand

A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals. [HPO:curators]


Osteolytic defects of the middle phalanx of the 5th finger

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


Bullet-shaped middle pinky finger bone
Bullet-shaped middle pinkie finger bone
Bullet-shaped middle little finger bone

Bullet-shaped middle phalanx of the 5th finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected. [HPO:curators]


Irregular end part of the outermost bone of pinky finger

Irregular end part of the outermost bone of pinkie finger

Irregular end part of the outermost bone of little finger

Irregular epiphysis of the distal phalanx of the 5th finger

Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger. [HPO:curators]


Fragmentation of end part of the outermost bone of pinkie finger

Fragmentation of end part of the outermost bone of pinky finger

Fragmentation of end part of the outermost bone of little finger

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

Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger. [HPO:curators]


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

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

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

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

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


Absent end part of the innermost bone of pinky finger

Absent end part of the innermost bone of pinkie finger

Absent end part of the innermost bone of little finger

Absent epiphysis of the proximal phalanx of the 5th finger

Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger. [HPO:curators]


Small end part of the innermost bone of pinky finger

Small end part of the innermost bone of pinkie finger

Small end part of the innermost bone of little finger

Small epiphysis of the proximal phalanx of the 5th finger

Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. [HPO:curators]


Enlarged end part of the innermost bone of little finger

Enlarged end part of the innermost bone of pinky finger

Enlarged end part of the innermost bone of pinkie finger

Enlarged epiphysis of the proximal phalanx of the 5th finger

Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. [HPO:curators]


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

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

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

Ivory epiphysis of the proximal phalanx of the 5th finger

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


Abnormality of end part of the innermost bone of pinky finger

Abnormality of end part of the innermost bone of pinkie finger

Abnormality of end part of the innermost bone of little finger

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

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


Abnormality of end part of pinkie finger bone

Abnormality of end part of pinky finger bone

Abnormality of end part of little finger bone

Abnormality of the epiphyses of the 5th finger

Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger. [HPO:sdoelken]


Abnormality of the innermost bone pinky finger

Abnormality of the innermost bone pinkie finger

Abnormality of the innermost bone little finger

Abnormality of the proximal phalanx of the 5th finger

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


Small end part of the outermost bone of pinky finger

Small end part of the outermost bone of pinkie finger

Small end part of the outermost bone of little finger

Small epiphysis of the distal phalanx of the 5th finger

Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. [HPO:curators]


Enlarged end part of the outermost bone of little finger

Enlarged end part of the outermost bone of pinkie finger

Enlarged end part of the outermost bone of pinky finger

Enlarged epiphysis of the distal phalanx of the 5th finger

Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. [HPO:curators]


Supernumerary bones of the axial skeleton


Duplication of bones involving the upper extremities


Osteolysis involving bones of the lower limbs


Fusion involving the bones of the lower limbs

Synostosis involving bones of the lower limbs

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


Abnormality of the musculature of the thorax

A disease or lesion affecting the muscles of the thorax. [HPO:curators]


Absent/underdeveloped muscles of extremities

Aplasia/Hypoplasia involving the musculature of the extremities


Muscle issues in the arms and/or legs
Abnormal limb muscles

Abnormality of the musculature of the limbs


Increased adipose tissue
Increased fat tissue

An increase in the amount of adipose tissue.


Mixed hypo- and hyperpigmentation of the skin


Aplasia/hypoplasia affecting bones of the axial skeleton

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


An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. [HPO:probinson]


Aplasia/Hypoplasia involving the sinuses

Absence or underdevelopment of a cranial sinus or sinuses. [HPO:curators]


Aplasia/Hypoplasia of the frontal sinuses

Absence or underdevelopment of frontal sinus. [HPO:probinson]


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


Underdevelopment of maxilla
Underdevelopment of upper jaw bones

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


Aplasia/Hypoplasia involving bones of the skull


Absent/underdeveloped skeleton
Absent/small skeleton

Aplasia/hypoplasia involving the skeleton

Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. [HPO:probinson]


Absent/underdeveloped head and neck of thighbone

Aplasia/Hypoplasia involving the femoral head and neck


Abnormal maturation of thigh bone head and neck

Abnormal ossification involving the femoral head and neck


Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis. [HPO:probinson]


Absent/underdeveloped pelvis
Absent/small pelvis


Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. []


Weakness of long finger extensor muscles


Loss of fat tissue below the skin from upper limbs

Loss of subcutaneous adipose tissue from upper limbs


Muscular atrophy involving the quadriceps muscle. [HPO:curators]


Atrophy of the muscles of the ankle. [HPO:probinson]


Generalized weakness of the muscles of the arms and legs. [HPO:curators]


Loss of fat tissue below the skin in gluts

Loss of gluteal subcutaneous adipose tissue

Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region. [HPO:probinson]


Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion. [HPO:probinson]


Decreased activity of mitochondrial respiratory chain

Decreased activity of the mitochondrial respiratory chain. [HPO:probinson]


Muscular atrophy that does not display a progression in severity with time. [HPO:curators]


Muscle weakness affecting the tibialis anterior muscle. [HPO:probinson]


Progressive muscular atrophy affecting muscles in the distal portions of the extremities. [HPO:curators]


A loss of adipose tissue. [HPO:probinson]


A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms. [DDD:hfirth]


Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium. [HPO:probinson]


Increased size of the ilium ala. [HPO:probinson]


Increased width of the femoral head. [HPO:probinson]


Widened sacrosciatic notch
Widening of the sacrosciatic notch

The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch. [HPO:probinson]


Early ossification of capital femoral epiphyses

Developmental acceleration of ossification of the proximal epiphysis of the femur. [HPO:probinson]


Abnormally wide morphology of the proximal epiphysis of the femur. [HPO:probinson]


Increased width of the proximal part of the shaft (metaphysis) of the femur. [HPO:probinson]


Abnormal kidney artery
Abnormality of the renal artery

Any structural abnormality of the renal artery. [HPO:probinson]


Absent/small inner ear
Absent/underdeveloped inner ear

Aplasia or developmental hypoplasia of the inner ear. [HPO:probinson]


Absent/underdeveloped external ear
Absent/small external ear

The presence of aplasia or developmental hypoplasia of all or part of the external ear. [HPO:probinson]


Absent/small ear
Absent/underdeveloped ear

The presence of aplasia or developmental hypoplasia of the ear. [HPO:probinson]


Absence of the epiglottis. [HPO:probinson]


The presence of a partially duplicated kidney. [HPO:probinson]


Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion. [PMID:22392950, PMID:30180816]


Gonadal dysgenesis with female appearance, male

Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation. [HPO:sdoelken]


Deposition of calcium salts in gonadal tissue. [HPO:probinson]


Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder. [Eurenomics:fschaefer]


Absent/small uterus
Absent/underdeveloped uterus

Absence or developmental hypoplasia of the uterus. [HPO:probinson]


Impaired histidine renal tubular absorption


The presence of many cysts in the medulla of the kidney. [Eurenomics:ewuehl]


Absent/underdeveloped fallopian tube
Absent/small fallopian tube

Aplasia/Hypoplasia of the fallopian tube

Aplasia or developmental hypoplasia of the fallopian tube. [HPO:probinson]


Uric acid urolithiasis independent of gout


Pubertal developmental failure in females


A developmental anomaly of the ureter. [HPO:probinson]


Postlingual sensorineural hearing impairment

A form of sensorineural hearing impairment with onset after the acquisition of speech. [HPO:probinson]


A condition in which the superior portion of the helix is folded over to a lesser degree than normal. [HPO:probinson]


Complete lack of functioning of the vestibular apparatus. [HPO:probinson]


Abnormal tailbone
Abnormality of the coccyx

Any structural abnormality of the coccyx. [HPO:probinson]


Absent/underdeveloped backbone
Absent/underdeveloped spine
Absent/small spine
Absent/small vertebral column
Absent/underdeveloped vertebral column
Absent/small backbone

Aplasia/Hypoplasia involving the vertebral column


Absent/small sacrum
Absent/underdeveloped sacrum

Aplasia or developmental hypoplasia of the sacral bone. [HPO:probinson]


Abnormality of the vertebral spinous processes


Absent/underdeveloped vertebrae
Absent/small vertebrae


Moderate sensorineural hearing impairment

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


Missing adult teeth
No secondary dentition
Absence of adult teeth
No adult dentition
Absence of secondary dentition


Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. [HPO:probinson]


Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set. [HPO:probinson]


Absent spinous processes of lower thoracic and lumbar vertebrae


Any abnormality of the atlas and the axis. [HPO:probinson]


An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front). [HPO:probinson]


The presence of punctiform calcification of the bone of the vertebral bodies. [HPO:probinson]


Detachment of the distal fingernails from the nail bed. [HPO:probinson]


A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails. [HPO:probinson]


Underdeveloped fingernail of pinkie finger

Underdeveloped fingernail of pinky finger

Underdeveloped fingernail of little finger

A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. [HPO:probinson]


Chronic infection of the nails by Candida species. [HPO:probinson]


An abnormality of the talus. [HPO:probinson]


An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel. [HPO:probinson]


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


Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. [HPO:probinson]


Reduced ability to transform factor X into its activated form factor Xa. [HPO:probinson]


An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation. [HPO:probinson]


Increased sickling of erythrocytes
Increased sickling of red cells


Underdeveloped iris dilator muscle
Hypoplasia of the pupil dilator muscle
Underdeveloped pupil dilator muscle

Underdevelopment of the dilatator pupillae. [HPO:probinson]


Elevated plasma branched chain amino acids

An increased concentration of a branched chain amino acid in the blood. [HPO:gcarletti]


An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine). []


Partial functional factor d deficiency
Partial functional adipsin deficiency

Partial functional complement factor D deficiency

A partial reduction in level of the complement component Factor D in circulation. []


Elevated creatine phosphokinase after exercise

Increased phospho-creatine kinase after exercise

Increased creatine kinase after exercise

Elevated phospho-creatine kinase after exercise

Increased creatine phosphokinase after exercise


Decreased von willebrand factor activity

Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. [HPO:probinson, PMID:19694940]


Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). [HPO:probinson]


Impaired collagen-induced platelet aggregation

Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. [DDD:kfreson]


Increased alkaline phosphatase measured within leukocytes. [HPO:probinson]


Decreased activity of mitochondrial complex II

A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria. [HPO:probinson]


Spinal cord posterior columns myelin loss


Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata. [HPO:probinson]


A partial reduction in level of the complement component Factor H in circulation. [https://emedicine.medscape.com/article/135478-overview]


Atrophy (wasting) of the cerebellar cortex. [HPO:probinson]


An abnormality of zinc ion homeostasis. [HPO:probinson]


Developmental hypoplasia of the adrenal medulla. [HPO:probinson]


The presence of multiple pancreatic islet cell adenomas. [HPO:probinsojn]


Decreased Arden ratio of electrooculogram

An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. [HPO:probinson]


Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. [HPO:probinson]


Decreased proportion circulating T-helper cells

Reduced proportion of helper T cells relative to the total number of T cells. [HPO:probinson]


Alkaline phosphatase levels measured within leukocytes is below detectable levels. [HPO:probinson]


An increase in the level of 3-hydroxydicarboxylic acid in the urine. [ORCID:0000-0001-5208-3432]


Excessive amounts of mucopolysaccharide in the urine. [HPO:probinson]


Impaired epinephrine-induced platelet aggregation

Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. [DDD:wouwehand]


Delayed maturation and calcification of the calcaneus. [HPO:probinson]


Synostosis of the calcaneus with the navicular bone. [HPO:probinson]


Limitation of the ability to bend the toes. [HPO:probinson]


Abnormality of the 5th long bone of foot

Abnormality of the fifth metatarsal bone

An anomaly of the fifth metatarsal bone. [HPO:probinson]


An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age. [PMID:19038077]


Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum. [HPO:probinson]


Abnormally loose or hyperelastic skin
Abnormally loose or stretchable skin


Absent/underdeveloped skin
Absent/small skin


Absent/small lens
Absent/underdeveloped lens

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


Aplasia/Hypoplasia affecting the anterior segment of the eye

Absence or underdevelopment of the anterior segment of the eye. [HPO:probinson]


Absent/small retina
Absent/underdeveloped retina


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


Absent/small optic nerve
Absent/underdeveloped optic nerve


Absent/underdeveloped eye
Absent/small eye


Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. [HPO:probinson]


Abnormal vasculature of the conjunctiva morphology

Abnormal morphology of the conjunctiva vasculature

Abnormality of the vasculature of the conjunctiva

Abnormal morphology of the conjunctival vasculature

Any abnormality of the blood vessels of the conjunctiva. [HPO:curators]


Absent/small iris
Absent/underdeveloped iris

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


Abnormality of the opening between the eyelids

An anomaly of the space between the medial and lateral canthi of the two open eyelids. [HPO:probinson]


An abnormality of an extraocular muscle. [HPO:probinson]


Abnormality of the vasculature of the eye


Abnormality of the retinal vasculature
Abnormality of retina blood vessels

A structural abnormality of retinal vasculature. [HPO:probinson]


Central fundal arteriolar microaneurysms

Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc. [HPO:probinson]


Abnormality of macular or foveal pigmentation. [DDD:ncarter]


Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies. [HPO:probinson]


Retinal exudate within the retinal tissue itself. [HPO:probinson]


Decreased amount of pigmentation in the macula lutea. [DDD:ncarter]


Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. [HPO:probinson]


A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation). [ORCID:0000-0003-0986-4123]


Optic atrophy from cranial nerve compression


Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head). [HPO:probinson]


A type of posterior cortical cataract characterized by dense lenticular opacities. [HPO:probinson]


Fishnet retinal pigmentation
Honeycomb retinal degeneration

A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus. [HPO:fprobst, PMID:28114409]


Congenital abnormal dilation of the pupil on both sides. [HPO:probinson]


Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina. []


Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room. [HPO:probinson]


A congenital defect resulting in absence of the lacrimal duct. [HPO:probinson]


A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation. []


Congenital absence of the extraocular muscles. [HPO:probinson]


Almond-shaped opening between the eyelids

A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. [PMID:19125427]


Restrictive partial external ophthalmoplegia

Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. [HPO:probinson]


Amyloid deposition in the vitreous humour

Amyloid deposition in the vitreous humor

Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity. [HPO:probinson]


Increased length of upper eyelashes
Ciliary trichomegaly of upper eyelashes
Long upper eyelashes

Increased length of the upper eyelashes. [HPO:probinson]


S-shaped eyes
S-shaped opening between the eyelids


Nonprogressive restrictive external ophthalmoplegia

Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. [HPO:probinson]


Inability to see well at night or in poor light with onset in adulthood. [HPO:probinson]


A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. [HPO:probinson]


A form of uveitis that is not associated with the formation of granulomas. [HPO:probinson]


Macular retinal pigment epithelial mottling

Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea. [HPO:probinson]


Patchy atrophy of the retinal pigment epithelium

Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas. []


Neovascularization of peripheral and posterior retina

A type of retinal neovascularization that affects the posterior pole of the retina. [HPO:probinson]


Abnormal development of the choroid and retina. [HPO:probinson]


A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes. [HPO:curators]


Decreased size of lower eyelid
Underdevelopment of lower eyelid
Small lower eyelid

Underdevelopment of the lower eyelid. [HPO:probinson]


Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula. [DDD:gblack, PMID:18289629]


Abnormality of chorioretinal pigmentation


Opacity of the entire lens nucleus. [HPO:probinson]


A congenital defect of development characterized by absence of the lacrimal gland. [HPO:probinson]


Congenital abnormality of the extraocular muscles. [HPO:probinson]


Failure of development of lower eyelashes

Lack of eyelashes on the lower lid. [HPO:probinson]


Peripheral tractional retinal detachment

Tractional retinal detachment at the periphery of the retina. []


Abnormal pigmentation in sun-exposed skin

Pigmentation anomalies of sun-exposed skin


Port-wine stain on neck
Nevus flammeus nuchae

Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. [HPO:sdoelken]


An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia). [HPO:curators]


Generalised reticulate brown pigmentation

Generalized reticulate brown pigmentation


Painful noncancerous fat tissue tumour under the skin

Painful noncancerous fat tissue tumor under the skin

The presence of multiple subcutaneous lipoma that cause pain. [HPO:probinson]


Mediosternal, longitudinal streak of hypopigmentation


A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis. [PMID:23984225, PMID:27904186]


Generalised seborrheic dermatitis
Generalized seborrheic eczema
Generalised seborrheic eczema

Seborrheic dermatitis that is not localized to any one particular region. []


Confetti hypopigmentation pattern of lower leg skin


Absent pigmentation of the ventral chest

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


Aplasia cutis congenita of midline scalp vertex


Loss of hair in the occipital region of the scalp with congenital onset. [HPO:probinson]


Patchy loss of skin color on arms
Hypopigmented skin patches on arms
Patchy loss of skin colour on arms


Loose and sagging skin of the fingers. [HPO:probinson]


Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands. []


Streaks of hyperkeratosis along each finger onto the palm


Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections. [ORCID:0000-0001-7941-2961]


Axillary and groin hyperpigmentation and hypopigmentation


Increased amount of keratin (visible as white scales) surrounding hair follicles. [PMID:23044575]


Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot. [HPO:probinson]


Generalised anhydrosis
Generalised anhidrosis
Generalized inability to sweat
Generalised inability to sweat
Generalized anhydrosis


Prominent thoracic and abdominal veins. [HPO:probinson]


Lichenification affecting primarily flexural areas of the skin. [HPO:probinson]


Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome. [PMID:29763176]


Increased groin pigmentation with raindrop depigmentation


A type of blistering that affects the skin of the palms of the hands and the soles of the feet. [HPO:probinson]


The presence of two to five cafe-au-lait macules. [DDD:cmoss]


Angioectasia of the oral mucous membrane

Telangiectasia of the oral mucous membrane

Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa. [HPO:probinson]


Stretchable face skin
Hyperelastic face skin


Wrinkled skin of hands and feet in newborn

Neonatal wrinkled skin of hands and feet


Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


Photosensitivity of the skin occurring early in life. [HPO:probinson]


An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. [HPO:probinson]


Atrophy/Degeneration involving the caudate nucleus


Wasting involving the motor neuron. [HPO:probinson]


Atrophy/Degeneration involving the corticospinal tracts


Atrophy/Degeneration affecting the cerebrum

The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. [HPO:probinson]


Atrophy/Degeneration affecting the central nervous system


Atrophy/Degeneration affecting the brainstem


Aplasia/Hypoplasia involving the corticospinal tracts


Absent/small cerebrum
Absent/underdeveloped cerebrum


Aplasia/Hypoplasia of the pyramidal tract


Absent/underdeveloped brainstem
Absent/small brainstem


A structural abnormality of the pons. [HPO:probinson]


Focal seizure characterized at onset by clonic movements affecting half of the face. [HPO:jalbers, PMID:28276060]


Mixed demyelinating and axonal polyneuropathy


Chaotic rapid conjugate ocular movements


Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other. [HPO:probinson]


A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. [HPO:probinson]


Alternating and recurrent weakness of the external ocular muscles. [HPO:probinson]


Decreased number of small peripheral myelinated nerve fibres

Decreased number of small peripheral myelinated nerve fibers


Spinocerebellar tract disease in lower limbs


Decreased distal sensory nerve action potential

A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. [HPO:probinson]


Muscular atrophy affecting the lower limb. [HPO:probinson]


Presence of irregular redundant loops of focally folded myelin in a peripheral nerve. [PMID:20301641, PMID:8817346]


Atherosclerosis (HP:0002621) of a cerebral artery. [HPO:probinson]


Focal T2 hyperintense basal ganglia lesion

A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. [HPO:probinson]


Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. [HPO:probinson]


A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. [HPO:probinson]


Diffuse demyelination of the cerebral white matter

A diffuse loss of myelin from nerve fibers in the central nervous system. [HPO:probinson]


Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern. [HPO:probinson]


Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration. [HPO:probinson]


A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change. [HPO:probinson, PMID:4819905]


Atrophy of the temporal cortex. [HPO:probinson]


A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system. [HPO:probinson]


Prolonged somatosensory evoked potentials


An increase in size of the third ventricle. [HPO:probinson]


Decreased amplitude of sensory action potentials

A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. [HPO:probinson]


Generalized atrophy or hypoplasia of the cerebrum. [HPO:sdoelken]


A morphological abnormality of the metencephalon. [HPO:probinson]


The formation of small cavities in the tissue of the basal ganglia. [HPO:probinson, PMID:8516046]


A type of gliosis that occurs in the vicinity of injured neurons. [HPO:probinson]


Slowly progressive spastic quadriparesis


Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. [HPO:curators]


The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe. [HPO:probinson]


Excessive number of small gyri (convolutions) on the surface of one side of the brain. [HPO:probinson]


Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature. [HPO:probinson]


Abnormal aggressive, impulsive or violent behaviour

Abnormal aggressive, impulsive or violent behavior


Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material

Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons. [HPO:probinson]


Atrophy of the frontal cortex. [HPO:probinson]


The presence of calcium deposition within brain structures that is present already at the time of birth. [HPO:probinson]


A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. [HPO:probinson]


Symmetrical progressive peripheral demyelination

A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. [HPO:probinson]


Sensorimotor polyneuropathy affecting arms more than legs


The occurrence of repeated episodes of generalized muscular hypotonia. [HPO:curators]


The presence of a papillary adenocarcinoma of the ovary. [HPO:probinson]


The presence of a carcinoma in the renal pelvis. [HPO:probinson]


Hereditary nonpolyposis colorectal carcinoma


Absent/underdeveloped sternum
Absent/small sternum


Absent/underdeveloped shoulder blade
Absent/small shoulder blade


Absent/underdeveloped thorax bone
Absent/small outermost thorax bone

Aplasia/Hypoplasia involving bones of the thorax


Absent/small collarbone
Absent/underdeveloped collarbone

Absence or underdevelopment of the clavicles (collar bones). [HPO:curators]


Abnormality of the liver vasculature
Abnormality of liver blood vessels

An abnormality of the hepatic vasculature. [HPO:probinson]


Abnormality of the atrioventricular valves

Abnormal atrioventricular valve morphology

An abnormality of an atrioventricular valve. [HPO:probinson]


Absent/underdeveloped lungs
Absent/small lungs


Polymorphic and polytopic ventricular extrasystoles


Early progressive calcific cardiac valvular disease


Steatosis in the myocardium. [HPO:probinson]


Short chordae tendineae of the tricuspid valve

Abnormally short chordae tendineae of the tricuspid valve. [HPO:probinson]


Abnormal tortuous (i.e., twisted) form of the aorta. [HPO:probinson]


Ventricular preexcitation with multiple accessory pathways

A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction. [HPO:probinson]


An abnormality of filling of a ventricle with blood during diastole. [HPO:probinson]


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


An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger). [HPO:probinson, PMID:12712270, PMID:21607596]


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


Small outermost segments of shoulder blade

Underdeveloped outermost segments of shoulder blade

Small distal segments of the shoulder blade


An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . [HPO:probinson]


An abnormal reduction in the number of mitochondria in hepatocytes. [HPO:probinson]


Intrahepatic cholestasis with episodic jaundice


An acute form of hepatic steatosis. [HPO:probinson]


An abnormal increase in the amount of intracellular lipid droplets in hepatocytes. [HPO:probinson]


Decreased mitochondrial complex III activity in liver tissue

Decreased activity of complex III of the mitochondrion in the liver. [HPO:probinson]


A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree. [HPO:probinson]


Underdevelopment of the bronical cartilage


An abnormality of the pulmonary lymphatic chain. [HPO:probinson]


Absent/underdeveloped long bone in upper arm

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


Absent/small forearm bones
Absent/underdeveloped forearm bones

Aplasia/hypoplasia involving forearm bones

Absence (due to failure to form) or underdevelopment of one or more forearm bones. [HPO:probinson]


Absent/small wrist bones
Absent/underdeveloped wrist bones

Aplasia/Hypoplasia involving the carpal bones

Absence or underdevelopment of the carpal bones. [HPO:curators]


An anomaly of a growth plate of a femur. [HPO:probinson]


Absent/underdeveloped bones of the upper limbs

Aplasia/hypoplasia involving bones of the upper limbs

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


Absent/small foot bones
Absent/underdeveloped foot bones

Aplasia/Hypoplasia involving bones of the feet


Absent/small lower limb bones
Absent/underdeveloped lower limb bones

Aplasia/hypoplasia involving bones of the lower limbs

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


Abnormality of the wide portion of shinbone

Abnormality of the wide portion of shankbone


Abnormality of the wide portion of the lower-limb bone


An anomaly of the femoral metaphysis. [HPO:probinson]


Abnormality of the dental pulp
Endodontic abnormality
Abnormality of tooth pulp

An abnormality of the dental pulp. [HPO:ibailleulforestier]


Abnormality of the pancreatic islet cells

An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. [HPO:probinson]


Irregular innermost shankbone end part
Irregular innermost shinbone end part

Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. [HPO:probinson]


Dysplastic radii
Radial longitudinal deficiency

Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia. [PMID:29257019]


Abnormal wide portion of innermost thighbone

Proximal femoral metaphyseal abnormality

An anomaly of the metaphysis of the proximal femur (close to the hip). [HPO:probinson]


Increased length of the radius. [HPO:probinson]


Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. [HPO:probinson]


The femur is shortened and displays flaring (widening) of the metaphyses. [HPO:probinson]


Broad shaft of long bone
Wide shaft of long bone

Increased width of the diaphysis of long bones. [HPO:probinson]


Failure of development of mandibular central incisor

Agenesis of lower secondary incisor or lower primary incisor. [HPO:ibailleulforestier]


Underdevelopment of tooth bud
Decreased size of tooth germ
Hypoplastic tooth buds
Hypotrophic tooth germ
Small tooth bud
Small tooth germ
Decreased size of tooth bud
Underdevelopment of tooth germ

Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth. [HPO:ibailleulforestier]


Lack of tooth eruption of the secondary dentition. [HPO:ibailleulforestier]


Reduced size of pulp chamber of tooth
Pulp obliteration
Obliteration of the pulp chamber
Small pulp chamber of tooth

Mineralized substance filling the entire dental pulp space. [PMID:162890, PMID:31468724]


Screwdriver-shaped incisors
Screwdriver shaped front teeth

An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape. [HPO:ibailleulforestier]


Abnormality of deciduous molar morphology

An abnormality of morphology of primary molar. [HPO:ibailleulforestier]


Conical maxillary lateral incisors
Pointed upper lateral incisors
Peg laterals
Peg shaped upper lateral incisors
Cone shaped upper lateral incisors
Conoid upper lateral incisors

A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter [HPO:ibailleulforestier, PMID:31468724]


Malformation of lower premolar
Malformation of mandibular bicuspid

An abnormality of the morphology of secondary premolar tooth. [HPO:ibailleulforestier]


The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor. [HPO:ibailleulforestier]


Rotated upper front teeth
Twisted upper front teeth
Rotated upper central incisors
Turned upper front teeth


Unerupted teeth due to mucopolysaccharidoses

Impacted teeth due to mucopolysaccharidoses

Failure of dental eruption due to mucopolysaccharidoses

Unerupted dentition due to mucopolysaccharidoses

Failure of tooth eruption due to mucopolysaccharidoses

Buried teeth encased in mucopolysaccharide


Hypotrophy of all teeth
Decreased size of all teeth
Tooth mass insufficiency
Decreased tooth mass
Generalised microdontia
Decreased width of all teeth

A generalized form of microdontia. [HPO:ibailleulforestier]


Dagger shaped pulp stones
Dagger shaped pulp denticles

Dagger-shaped calcifications in the dental pulp. [HPO:ibailleulforestier]


Failure of development of maxillary central incisor

Agenesis of upper secondary incisor or of upper central primary incisor. [HPO:ibailleulforestier]


Multiple non-erupting teeth
Multiple unerupted teeth
Failure of eruption of multiple teeth

The presence of multiple embedded tooth germs which have failed to erupt. [HPO:ibailleulforestier]


Generalized hypoplasia of tooth enamel
Generalised hypoplasia of dental enamel
Generalised hypoplasia of tooth enamel

A generalized form of developmental hypoplasia of the dental enamel. [HPO:ibailleulforestier]


Absent/underdeveloped fingers
Absent/small fingers

Small/hypoplastic or absent/aplastic fingers. [HPO:curators]


Absent/small index finger
Absent/underdeveloped index finger

A small/hypoplastic or absent/aplastic 2nd finger. [HPO:curators]


Abnormality of the end part of the index finger bone

Abnormality of the epiphyses of the 2nd finger

Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger. [HPO:curators]


Absent/underdeveloped little finger
Absent/underdeveloped pinkie finger
Absent/underdeveloped pinky finger
Absent/small pinky finger
Absent/small pinkie finger
Absent/small little finger

A small/hypoplastic or absent/aplastic 5th finger. [HPO:sdoelken]


Abnormal wrist bone maturation
Abnormal maturation of ankle bones


Decreased width of the metacarpal bones (that is, reduced diameter). [HPO:probinson]


Tapering pointed ends of distal finger phalanges

A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms). [HPO:probinson, PMID:10662807]


Thin innermost bone with broad end part of the hand bone

Thin proximal phalanges with broad epiphyses of the hand


Hypersegmentation of proximal phalanx of second finger

Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger. [HPO:probinson]


Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance. [HPO:probinson]


The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat. [HPO:probinson]


Phalanges of the fingers becoming thinner toward the distal end. [HPO:probinson]


Prominent proximal interphalangeal joints


Irregular morphology of one or more metacarpal bones. [HPO:probinson]


Increased length of multiple or a single phalanx of finger. [HPO:probinson]


Increased side-to-side width of the metacarpal epiphyses. [HPO:probinson]


Shortening of all innermost bones of the fingers

Shortening of all proximal phalanges of the fingers

Congenital hypoplasia of proximal phalanx of finger or all fingers. [HPO:probinson]


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


Metacarpal that becomes thinner toward the distal end. [HPO:probinson]


Increased mobility of one ore more metacarpophalangeal joint. [HPO:probinson]


Severely shortened metacarpal with a cuboidal appearance. [HPO:probinson]


A reduction in phenylalanine 4-monooxygenase level. [HPO:probinson]


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


Ventilator dependence with inability to wean


Abnormal respiratory motile cilium morphology

Abnormal arrangement of the structures of the motile cilium. [HPO:probinson, MP:0011050]


Abnormal renal corticomedullary differentiation

An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. [HPO:probinson, PMID:22528889]


Abnormality of the cortex of hand bones
Abnormality of hand cortical bone

An anomaly of the outer shell (cortex) of a hand bone. []


Abnormalities of shaft of long bone of the hand

Abnormalities of the diaphyses of the hand


Abnormality of the epiphyses of the fingers

Abnormality of the epiphyses of the phalanges of the hand

Abnormality of the end part of the hand bones

Abnormality of the epiphyses of the hand

Any abnormality of the epiphyses of the phalanges or metacarpal bones. [HPO:curators]


Abnormalities of the metaphyses of the hand

Abnormality of the wide portion of the hand bone


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


Abnormality of end part of long bone of hand


Radial deviation of thumb terminal phalanx


Duplication of the metacarpal I bones. [HPO:curators]


Fusion of innermost shinbone and calf bone


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


Absent ossification of cervical vertebral bodies

A lack of bone mineralization of one or more body of cervical vertebra. [HPO:probinson]


Fused long bone of hand with innermost finger bone

Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. [HPO:probinson]


Enlarged sagittal diameter of the cervical canal


An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. [HPO:probinson, PMID:20661403]


A form of triphalangeal thumb that can be placed opposite the fingers of the same hand. [HPO:probinson]


Generalized deposition of calcium salts within the brain. [HPO:probinson]


An abnormally round shape of the middle phalanx of the finger. [HPO:probinson]


Shortening of all outermost bone of the toes

Shortening of all distal phalanges of the toes

Abnormally short distal phalanx of toe of all toes. [HPO:probinson]


Cortical thickening of long bone diaphyses

Abnormal thickening of the cortex of the diaphyseal region of long bones. [HPO:curators]


Decreased length of condylar process of mandible

Decreased height of condylar process of mandible

Bilateral hypoplasia of mandibular condylar head

Bilateral hypoplasia of condylar process of mandible

Bilateral hypoplasia of mandibular condylar neck


A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine. [HPO:probinson]


Fifth finger distal phalanx clinodactyly

Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger). [HPO:probinson]


Small and flat posterior fossa of skull
Small and flat posterior skull bones

An abnormally small and flat configuration of the posterior cranial fossa. [HPO:curators]


Easily subluxated first metacarpophalangeal joints


An abnormal irregularity of cortical bone. [HPO:curators]


The ability of the thumb joints to move beyond their normal range of motion. [HPO:curators]


Abnormal reduction in length of all metacarpal bones. [HPO:probinson]


Increased bone density with cystic changes


Dysplastic distal thumb phalanges with a central hole


Tongue-like lumbar vertebral deformities

A tongue-like protusion from the anterior aspect of lumbar vertebral bodies. [PMID:25349664]


Rudimentary postaxial polydactyly of hands


Deposition of calcium salts on both sides of the brain. [HPO:probinson]


Extreme thickening of the cortex of long bones. [HPO:curators]


A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. [HPO:probinson]


Multiple exostoses originating in the fingers and toes. [HPO:probinson]


Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. [HPO:probinson]


Cutaneous syndactyly between fingers 2 and 5

A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. [HPO:probinson]


Underdevelopment of the ulna on both sides. [HPO:probinson]


Abnormal vertebral segmentation and fusion


Decreased anterioposterior diameter of lumbar vertebral bodies


Posterior fusion of lumbosacral vertebrae

Bony fusion of the posterior part of the L5 vertebral body with the sacrum. [PMID:5443339]


Osteoporosis affecting predominantly the vertebrae. [HPO:curators]


Trapezoidal vertebral bodies
Trapezoidal shaped vertebral bodies

An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side. [PMID:33247084]


The ability of the interphalangeal joints to move beyond their normal range of motion. [HPO:curators]


Large cafe-au-lait macules with irregular margins

Large hypermelanotic macules with jagged borders. [HPO:probinson]


Loss of all scalp hair with congenital onset. [HPO:probinson]


A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. [HPO:probinson]


Imbalanced Hb synthesis
Imbalanced haemoglobin synthesis

Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia. [HPO:probinson]


Abnormality of the kinin-kallikrein system


Malformation of the malar arch
Anomaly of the zygomatic arch
Deformity of the malar arch
Abnormality of the malar arch
Deformity of the zygomatic arch
Abnormality of the zygomatic arch
Anomaly of the malar arch
Malformation of the zygomatic arch

An abnormality of the zygomatic arch, also known as the cheek bone. [HPO:probinson]


The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a metopic suture"." [HPO:curators]


T cell chronic lymphocytic lymphoma/leukemia

A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent. [ISBN:9780721600406]


A form of hemolytic anemia that can be triggered by exertion. [HPO:probinson]


A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas. [HPO:probinson]


Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. [HPO:probinson]


Impaired neutrophil killing of staphylococci

A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph. [https://en.wikipedia.org/wiki/Staphylococcus_aureus]


The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root. [HPO:probinson, PMID:11711818]


An abnormality of the epiglottis. [HPO:probinson]


Abnormality of the alternative complement pathway

A deviation in any aspect of the alternative complement pathway. []


Abnormally increased density of craniofacial bone tissue. [HPO:probinson]


Failure of development of ethmoid sinuses

Lack (aplasia) of the ethmoidal sinus. [HPO:probinson]


An increased density in the cranial sutures following obliteration. [HPO:curators]


Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections. [ORCID:0000-0001-7941-2961]


Lack of detectible CD8-positive T cells []


Recurrent gram-negative bacterial infections

Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents. [HPO:probinson]


Persistent overgrowth of Candida albicans in the gastrointestinal tract. [HPO:probinson]


An abnormal reduction of the cell motility of neutrophils. [HPO:probinson]


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


Recurrent Haemophilus influenzae infections

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


Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. []


A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. [PMID:18755723]


Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches. []


Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system. [HPO:probinson]


An abnormality of the complement system. [HPO:probinson, PMID:19388161]


Somnolent facial expression
Sleepy facial expression


An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. [DDD:cwright]


Prominent septum of nose
Prominent nasal septum


Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation. [HPO:probinson]


A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta. [HPO:probinson, PMID:16088500]


Deformity of the nasolabial region
Malformation of the nasolabial region
Anomaly of the nasolabial region


An abnormality of the jejunum, i.e., of the middle section of the small intestine. [HPO:probinson]


Underdeveloped/absent pec muscle
Small/absent pec muscle


Failure to form of portions of the abdominal musculature. [HPO:probinson]


The presence of degenerative changes of the liver. [HPO:probinson]


A form of chronic pancreatitis that is characterized by calcification. [HPO:probinson]


Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection. [HPO:probinson]


Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity. [HPO:curators]


A sensation of stiffness in the joints that occurs following waking up in the morning. [HPO:curators]


Abnormally flat shape of the heads of the metatarsal bones. [HPO:probinson]


Proximal finger joint hyperextensibility


An impairment of the electrical continuity between the atria and ventricles. [PMID:15372490]


Abnormality of cardiac atrium morphology

Any structural abnormality of a cardiac atrium. [HPO:probinson]


Abnormality of the intervertebral disk
Abnormality of the intervertebral disc

Any structural abnormality of the intervertebral disk. [HPO:probinson]


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


Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. [HPO:curators]


Abnormal nose morphology
Abnormal of nasal shape
Abnormal of morphology of nose
Abnormal of shape of nose


Streak increase in bone density in wide portion of wide bone

The presence of streaks (bands) of abnormally increased density of metaphyseal bone. [HPO:probinson]


Cone-shaped end part of long bone fused within their wide portion of wide bone

Cone-shaped epiphyses fused within their metaphyses


Developmental hypoplasia (shortening) of all phalanges of the foot. [HPO:probinson]


The humerus is shortened and displays flaring (widening) of the metaphyses. [HPO:probinson]


Absent/underdeveloped end part of innermost thighbone

Absent/small end part of innermost thighbone

Aplasia/Hypoplasia of the capital femoral epiphysis

Absence or underdevelopment of the proximal epiphysis of the femur. [HPO:probinson]


Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta. [HPO:probinson]


Recurrent hemorrhagic stroke
Recurrent cerebral haemorrhage

Recurrent bleeding into the parenchyma of the brain. [DDD:dbrown]


Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries. [HPO:probinson]


Dilatation of the descending thoracic aorta


Extracranial internal carotid artery dissection

A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall. [HPO:probinson]


Increased pressure in the pre-hepatic portal vein. [HPO:probinson]


Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. [HPO:probinson]


Arteriosclerosis of small cerebral arteries

Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain. [HPO:probinson]


Abnormality of the pulmonary vasculature


Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication. []


Abnormal Mg concentration
Abnormality of magnesium homeostasis

An abnormality of magnesium ion homeostasis. [HPO:probinson]


A form of lactic acidemia with congenital onset. [HPO:probinson]


A form of lactic acidemia that occurs following exercise or exertion. [HPO:probinson, PMID:15308499]


A form of lactic acidemia that occurs in relation to stress or infection. [HPO:probinson]


Respiratory distress requiring mechanical ventilation

Respiratory distress necessitating mechanical ventilation

Respiratory distress requiring endotracheal intubation

Respiratory failure requiring assisted ventilation

A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. [ORCID:0000-0002-7440-8864, PMID:18710593, PMID:28620428]


Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections. []


Impaired ADP-induced platelet aggregation

Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. [HPO:probinson, PMID:11413156]


An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C. [HPO:probinson]


The presence of erythrocytes that are sphere-shaped and reduced in size. [HPO:probinson]


Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream. [HPO:probinson]


A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia. [HPO:probinson]


Hypersegmentation of neutrophil nuclei in peripheral blood

An excessive division of the lobes of the nucleus of a neutrophil. [HPO:probinson]


A form of hemolytic anemia that is triggered by ingestion of certain drugs. [HPO:probinson]


Underdevelopment of the small intestine. [HPO:probinson]


Fluid retention and edema in the intestine caused by a compromised lymphatic system. [HPO:probinson]


Hypertrichosis cubiti
Elbow hypertrichosis
Pilosity of elbow
Hairy elbow syndrome

Excessive, increased hair growth located in the elbow region. [HPO:probinson]


Fragile, easily breakable scalp hair. [DDD:cmoss]


Exercise-induced polymorphic ventricular tachycardia

Catecholaminergic polymorphic ventricular tachycardia

Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration. [PMID:15913575]

Effort-induced polymorphic ventricular tachycardia


A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset. [HPO:probinson]


An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. [HPO:probinson]


Fusion of the C5 and C6 cervical vertebrae. [HPO:probinson]


Anterior tongue-like protrusions of thoracic vertebral bodies. [HPO:probinson]


Increased size of the vertebral pedicle. [HPO:probinson]


The closed form of spina bifida with incomplete closure of S1 with intact overlying skin. [HPO:probinson]


Anterior beaking of lower thoracic vertebrae

Anterior tongue-like protrusions of the lower thoracic vertebral bodies. [HPO:probinson]


The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin. [HPO:probinson]


Supernumerary vertebral ossification centres

Supernumerary vertebral ossification centers

Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine. [HPO:probinson]


Excessive, increased hair growth located in the sacral region. [HPO:probinson]


Large clumps of pigment irregularly distributed along hair shaft


Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull). [HPO:curators]


Bilateral blockage of the rear opening of the nasal cavity

Bilateral absence (atresia) of the posterior nasal aperture (choana). [HPO:probinson]

Bilateral obstruction of the rear opening of the nasal cavity


Chronic nasal inflammation due to narrow nasal airway

Chronic rhinitis due to narrow nasal airway


Skull stopped growing
Head stopped growing
Cranium stopped growing

Stagnation of head growth seen as flattening of the head circumference curve. [HPO:probinson]


Malformation of craniofacial shape
Uneven craniofacial structures
Abnormality of craniofacial shape

Asymmetry of the bones of the skull and the face. [HPO:curators]


Increased ossification of mandibular bone

Hyperostosis (bony overgrowth) of the mandible. [HPO:probinson]


Prolonged brainstem auditory evoked potentials


Postauricular fibroepithelial polyp
Postauricular acrochordon
Skin tag behind the ear

A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). [HPO:probinson]


Deformity of the cheeks
Abnormality of the cheeks
Abnormality of the cheek
Malformation of the cheeks
Anomaly of the cheeks

An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. Buccal" means relating to the cheek. The cheek is part of the midface" []


An abnormality of the pylorus. [HPO:probinson]


Congenital atresia of the pylorus. [HPO:probinson]


Abnormality of alkaline phosphatase activity

Abnormality of alkaline phosphatase level

An abnormality of alkaline phosphatase level. [HPO:probinson]


Abnormality of the anal canal. [HPO:probinson]


Abnormality of glycosaminoglycan metabolism. [HPO:probinson]


Decreased purine level
Decreased purine levels

Decreased circulating purine concentration

Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. []


Increased purine levels
Increased purine level

Increased circulating purine concentration

Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. []


An abnormality of glycolysis. [HPO:probinson]


Abnormal circulating tryptophan concentration

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


Abnormal circulating nitrogen compound concentration

Any deviation from the normal concentration of a nitrogen compound in the blood circulation. [HPO:gcarletti]


An abnormal concentration of leptin in the blood. [HPO:probinson]


Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. [HPO:probinson]


Abnormality of glycosphingolipid metabolism

An abnormality of glycosphingolipid metabolism. [HPO:probinson]


Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose. [HPO:gcarletti]


Abnormality of aromatic amino acid family metabolism

Abnormal circulating aromatic amino acid concentration

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


Abnormality of the posterior segment of the eyeball

Abnormal morphology of the posterior segment of the globe

Abnormality of the posterior segment of the globe

Abnormal posterior eye segment morphology


Abnormality of the anterior segment of the eyeball

Abnormality of the anterior segment of the globe

Abnormal anterior eye segment morphology

An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). [HPO:probinson]


Any structural anomaly of the vitreous body. [HPO:probinson]


An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. [HPO:probinson]


A reticulocyte abnormality. [HPO:probinson]


Developmental defect characterized by an anomalous anatomic location of the heart. []


Abnormality of GI vasculature
Abnormality of GI blood vessels

Abnormality of gastrointestinal vasculature


Abnormality of the mucous membrane layer of stomach

An abnormality of the gastric mucous membrane. [HPO:probinson]


Subluxation of metacarpophalangeal joints

Subluxation of metacarpal phalangeal joints

A partial dislocation affecting some or all of the metacarpophalangeal joints. [HPO:probinson]


Sclerosis of hand bones with transverse striations


Uneven increase in bone density in hand bones


Abnormal formation of new bone on the surface of a bone of the hand. [HPO:curators]


Cupped metaphysis of hand bones
Cupped wide portion of hand bones


Partial dislocation of small joints of hand

Subluxation of the small joints of the hand

A partial dislocation of some or all of the small joints of the hand. [HPO:curators]


Osteoarthritis of the small joints of the hand


Underdevelopment of the trapezoid. [HPO:probinson]


Underdevelopment of the trapezium. [HPO:probinson]


An anomaly of trapezium. [HPO:probinson]


Underdevelopment of the scaphoid. [HPO:probinson]


Carpal bones with irregular or fragmented margins. [HPO:probinson]


Bone-in-a-bone appearance of wrist bones

Bone-in-a-bone appearance of carpal bones

The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones. [HPO:curators]


Partially dislocated innermost hinge joint of little finger

Partially dislocated innermost hinge joint of pinky finger

Partially dislocated innermost hinge joint of pinkie finger

Subluxation of the proximal interphalangeal joint of the little finger

A partial dislocation of the proximal interphalangeal joint of the little finger. [HPO:sdoelken]


Abnormality of the end part of middle pinkie finger bone

Abnormality of the end part of middle little finger bone

Abnormality of the end part of middle pinky finger bone

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

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


Abnormality of the middle bone of pinky finger

Abnormality of the middle bone of little finger

Abnormality of the middle bone of pinkie finger

Abnormality of the middle phalanx of the 5th finger


Curved little finger bone
Curved pinky finger bone
Curved pinkie finger bone

Curved phalanges of the 5th (little) finger. [HPO:curators]


Abnormality of the phalanges of the 5th finger

Abnormality of the phalanges of the 5th (little) finger. [HPO:sdoelken]


Osteolytic defects of the phalanges of the 4th finger

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


Abnormal middle finger bone of the middle finger

Abnormality of the middle phalanx of the 3rd finger


Central nasal defect
Midline defect of the nose
Midline nasal defect
Central defect of nose

This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. [HPO:sdoelken]


Midline nasal groove
Central nasal groove

An abnormal groove on the midline of the nose that may extend to the nasal tip. [HPO:sdoelken]


Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius. [HPO:probinson, PMID:28603568]


A sloped configuration of the metaphysis (shaft) of the ulna. [HPO:curators]


Abnormality of the styloid process of ulna


An anomaly of the radial diaphysis. [HPO:probinson]


Sclerotic radial metaphysis with longitudinal striations


Irregular ossification of the radial metaphysis


The presence of a splayed (i.e.,flared) metaphyseal segment of the radius. [HPO:probinson]


Premature fusion of the radial epiphyseal plates

A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone. [HPO:sdoelken]


The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance. []


Increased width of the ulna. [HPO:probinson]


A bending or abnormal curvature affecting either the radius, the ulna, or both. [HPO:probinson]