| HPO |
HP:0005991 |
Limited neck flexion |
"Reduced abilty to lower the chin towards the chest by bending the neck." [] |
— |
HP:0005986 |
| HPO |
HP:0005994 |
Nodular goiter |
"Enlargement of the thyroid gland related to one or more nodules in the thyroid gland." [HPO:probinson] |
— |
HP:0000853 |
| HPO |
HP:0005995 |
Decreased adipose tissue around neck |
"Reduced amount of adipose tissue in the region of the neck." [HPO:probinson] |
— |
HP:0003758 |
| HPO |
HP:0005997 |
Restricted neck movement due to contractures |
— |
— |
HP:0001371, HP:0005986 |
| HPO |
HP:0005999 |
Ureteral atresia |
"A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter." [HPO:probinson] |
— |
HP:0025633 |
| HPO |
HP:0006000 |
Ureteral obstruction |
"Obstruction of the flow of urine through the ureter." [HPO:probinson] |
— |
HP:0025634 |
| HPO |
HP:0006006 |
Hypotrophy of the small hand muscles |
— |
— |
HP:0001421 |
| HPO |
HP:0006008 |
Unilateral brachydactyly |
— |
— |
HP:0001156 |
| HPO |
HP:0006009 |
Broad phalanx |
"Increased side-to-side width of one or more phalanges of the fingers or toes." [HPO:probinson] |
— |
HP:0005622, HP:0011297 |
| HPO |
HP:0006011 |
Cuboidal metacarpal |
"Severely shortened metacarpal with a cuboidal appearance." [HPO:probinson] |
The metacarpals are normally tubular in appearance. |
HP:0010049 |
| HPO |
HP:0006012 |
Widened metacarpal shaft |
— |
— |
HP:0005916 |
| HPO |
HP:0006014 |
Abnormally shaped carpal bones |
— |
— |
HP:0001191 |
| HPO |
HP:0006016 |
Delayed phalangeal epiphyseal ossification |
"Delay in the process of formation and maturation of the epiphysis of one or more phalanx." [HPO:probinson] |
— |
HP:0002663 |
| HPO |
HP:0006019 |
Reduced proximal interphalangeal joint space |
— |
— |
HP:0006261 |
| HPO |
HP:0006026 |
Rounded epiphyses |
— |
— |
HP:0005924 |
| HPO |
HP:0006028 |
Metaphyseal cupping of metacarpals |
"Metaphyseal cupping affecting the metacarpal bones." [HPO:curators] |
— |
HP:0003021 |
| HPO |
HP:0006035 |
Cone-shaped epiphyses of phalanges 2 to 5 |
— |
— |
HP:0010230 |
| HPO |
HP:0006040 |
Long second metacarpal |
— |
— |
HP:0010036 |
| HPO |
HP:0006042 |
Y-shaped metacarpals |
"Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly." [HPO:curators] |
— |
HP:0005916 |
| HPO |
HP:0006045 |
Short pointed phalanges |
— |
— |
HP:0009803 |
| HPO |
HP:0006048 |
Distal widening of metacarpals |
"Abnormal increase in width of the distal region of the metacarpal bones." [HPO:curators] |
— |
HP:0005916 |
| HPO |
HP:0006051 |
Metacarpal periosteal thickening |
— |
— |
HP:0001163, HP:0030313 |
| HPO |
HP:0006055 |
Ulnar deviated club hands |
— |
— |
HP:0009487 |
| HPO |
HP:0006059 |
Cone-shaped metacarpal epiphyses |
"A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones." [HPO:curators] |
— |
HP:0005913, HP:0010579 |
| HPO |
HP:0006060 |
Tombstone-shaped proximal phalanges |
— |
— |
HP:0009834 |